Entrez Gene

Basic Information
Gene ID	6548
Name	SLC9A1
Synonymous	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1;SLC9A1;solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1
Definition	Na(+)/H(+) exchanger 1\|Na-Li countertransporter\|protein phosphatase 1, regulatory subunit 143\|sodium/hydrogen exchanger 1\|solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)\|solute carrier family 9 (sod
Position	1p36.1-p35
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2403C>T; p.H801H; 1:27100352-27100352	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.591G>A; p.T197T; 1:27114048-27114048	pancreas	carcinoma	Substitution - coding silent
c.999C>T; p.F333F; 1:27109592-27109592	breast	carcinoma	Substitution - coding silent
c.1699C>T; p.R567C; 1:27102506-27102506	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1165G>A; p.V389I; 1:27107765-27107765	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1558G>A; p.E520K; 1:27103240-27103240	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1558G>A; p.E520K; 1:27103240-27103240	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.690C>T; p.F230F; 1:27113949-27113949	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1212C>T; p.A404A; 1:27107718-27107718	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2106C>T; p.G702G; 1:27101207-27101207	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.203C>T; p.T68I; 1:27154132-27154132	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1487G>A; p.G496D; 1:27103311-27103311	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.413T>A; p.V138E; 1:27114226-27114226	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.493C>T; p.L165L; 1:27114146-27114146	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1519G>A; p.A507T; 1:27103279-27103279	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1654C>A; p.R552R; 1:27102551-27102551	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.384C>T; p.I128I; 1:27114255-27114255	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.345G>A; p.M115I; 1:27153990-27153990	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1852C>T; p.R618C; 1:27102099-27102099	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.157C>A; p.R53R; 1:27154178-27154178	oesophagus	carcinoma	Substitution - coding silent
c.1838_1839CC>TT; p.S613F; 1:27102112-27102113	skin	malignant_melanoma	Substitution - Missense
c.889A>T; p.S297C; 1:27109702-27109702	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2108C>T; p.S703L; 1:27101205-27101205	skin	malignant_melanoma	Substitution - Missense
c.1857C>T; p.I619I; 1:27102094-27102094	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.880G>A; p.G294S; 1:27109711-27109711	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.206_207insC; p.E70fs*6; 1:27154128-27154129	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.880G>A; p.G294S; 1:27109711-27109711	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.880G>A; p.G294S; 1:27109711-27109711	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1627C>T; p.H543Y; 1:27102692-27102692	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1695C>T; p.G565G; 1:27102510-27102510	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1064C>T; p.A355V; 1:27109527-27109527	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2274C>T; p.D758D; 1:27100481-27100481	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2203G>T; p.E735*; 1:27100552-27100552	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.19A>G; p.I7V; 1:27154316-27154316	kidney	other; neoplasm	Substitution - Missense
c.1285G>C; p.V429L; 1:27106085-27106085	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.96C>G; p.L32L; 1:27154239-27154239	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.580G>A; p.V194M; 1:27114059-27114059	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1767G>A; p.V589V; 1:27102438-27102438	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1191C>T; p.F397F; 1:27107739-27107739	skin	malignant_melanoma	Substitution - coding silent
c.408C>T; p.I136I; 1:27114231-27114231	skin	malignant_melanoma	Substitution - coding silent
c.1719C>G; p.L573L; 1:27102486-27102486	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2341G>A; p.A781T; 1:27100414-27100414	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2341G>A; p.A781T; 1:27100414-27100414	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1357G>A; p.A453T; 1:27106013-27106013	pancreas	carcinoma	Substitution - Missense
c.864C>T; p.I288I; 1:27109727-27109727	skin	malignant_melanoma	Substitution - coding silent
c.1652A>G; p.N551S; 1:27102553-27102553	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1652A>G; p.N551S; 1:27102553-27102553	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1652A>G; p.N551S; 1:27102553-27102553	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.17G>A; p.G6D; 1:27154318-27154318	breast	carcinoma	Substitution - Missense
c.876C>T; p.F292F; 1:27109715-27109715	skin	malignant_melanoma	Substitution - coding silent
c.257G>A; p.R86H; 1:27154078-27154078	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1090C>T; p.R364C; 1:27107840-27107840	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.185C>T; p.T62I; 1:27154150-27154150	skin	malignant_melanoma	Substitution - Missense
c.2037+10G>C; p.?; 1:27101715-27101715	liver	carcinoma	Unknown
c.127G>A; p.A43T; 1:27154208-27154208	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2037+10G>C; p.?; 1:27101715-27101715	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.1111A>T; p.I371F; 1:27107819-27107819	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1832C>T; p.P611L; 1:27102119-27102119	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1801G>A; p.V601I; 1:27102404-27102404	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.805G>C; p.V269L; 1:27113834-27113834	skin	malignant_melanoma	Substitution - Missense
c.2104G>A; p.G702S; 1:27101209-27101209	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1008C>G; p.L336L; 1:27109583-27109583	breast	carcinoma	Substitution - coding silent
c.2342C>T; p.A781V; 1:27100413-27100413	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2342C>T; p.A781V; 1:27100413-27100413	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2171C>A; p.P724Q; 1:27100584-27100584	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.261G>T; p.K87N; 1:27154074-27154074	skin	malignant_melanoma	Substitution - Missense
c.2338C>T; p.P780S; 1:27100417-27100417	skin; mucosal	malignant_melanoma	Substitution - Missense
c.431delG; p.G144fs*2; 1:27114208-27114208	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2099G>A; p.R700H; 1:27101214-27101214	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2099G>A; p.R700H; 1:27101214-27101214	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1393_1394CT>TA; p.L465*; 1:27105976-27105977	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2234G>T; p.S745I; 1:27100521-27100521	liver	carcinoma	Substitution - Missense
c.2234G>T; p.S745I; 1:27100521-27100521	liver	carcinoma	Substitution - Missense
c.537G>A; p.L179L; 1:27114102-27114102	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2314C>T; p.P772S; 1:27100441-27100441	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.699C>T; p.I233I; 1:27113940-27113940	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2226A>C; p.L742F; 1:27100529-27100529	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2226A>C; p.L742F; 1:27100529-27100529	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.71C>T; p.A24V; 1:27154264-27154264	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.699C>T; p.I233I; 1:27113940-27113940	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2226A>C; p.L742F; 1:27100529-27100529	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.823C>T; p.H275Y; 1:27109768-27109768	ovary	other; neoplasm	Substitution - Missense
c.538C>T; p.R180W; 1:27114101-27114101	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1269C>T; p.I423I; 1:27107661-27107661	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.293_294delAC; p.H98fs*119; 1:27154041-27154042	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Deletion - Frameshift
c.1639A>G; p.K547E; 1:27102680-27102680	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.450C>T; p.G150G; 1:27114189-27114189	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.223_224insTA; p.N75fs*10; 1:27154111-27154112	stomach	carcinoma; diffuse_adenocarcinoma	Insertion - Frameshift
c.450C>T; p.G150G; 1:27114189-27114189	central_nervous_system; brain	glioma	Substitution - coding silent
c.91delG; p.V31fs*53; 1:27154244-27154244	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.298C>T; p.R100C; 1:27154037-27154037	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1006C>T; p.L336F; 1:27109585-27109585	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.117C>T; p.L39L; 1:27154218-27154218	pancreas	carcinoma	Substitution - coding silent
c.945C>T; p.I315I; 1:27109646-27109646	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1211C>T; p.A404V; 1:27107719-27107719	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1864G>T; p.A622S; 1:27102087-27102087	skin; trunk	malignant_melanoma	Substitution - Missense
c.462delC; p.F155fs*36; 1:27114177-27114177	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.462delC; p.F155fs*36; 1:27114177-27114177	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.462delC; p.F155fs*36; 1:27114177-27114177	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2005C>A; p.R669R; 1:27101757-27101757	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.946G>A; p.A316T; 1:27109645-27109645	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1163G>A; p.S388N; 1:27107767-27107767	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2275G>A; p.D759N; 1:27100480-27100480	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2279G>A; p.G760E; 1:27100476-27100476	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2054C>A; p.T685K; 1:27101259-27101259	breast	carcinoma	Substitution - Missense
c.1008C>A; p.L336L; 1:27109583-27109583	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.962G>A; p.R321Q; 1:27109629-27109629	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1679A>G; p.K560R; 1:27102526-27102526	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2301_2302GG>AT; p.E768*; 1:27100453-27100454	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2256T>C; p.A752A; 1:27100499-27100499	skin	malignant_melanoma	Substitution - coding silent
c.1124C>T; p.S375F; 1:27107806-27107806	skin	malignant_melanoma	Substitution - Missense
c.567C>G; p.I189M; 1:27114072-27114072	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.377C>G; p.S126*; 1:27114262-27114262	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.377C>G; p.S126*; 1:27114262-27114262	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1383C>T; p.I461I; 1:27105987-27105987	skin	malignant_melanoma	Substitution - coding silent
c.1842G>A; p.L614L; 1:27102109-27102109	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1758C>T; p.I586I; 1:27102447-27102447	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1655G>A; p.R552Q; 1:27102550-27102550	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1665G>T; p.K555N; 1:27102540-27102540	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.959C>T; p.S320F; 1:27109632-27109632	skin; mucosal	malignant_melanoma	Substitution - Missense
c.478G>A; p.V160I; 1:27114161-27114161	liver	carcinoma	Substitution - Missense
c.860G>A; p.G287D; 1:27109731-27109731	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1894C>T; p.R632C; 1:27102057-27102057	skin	malignant_melanoma	Substitution - Missense
c.311A>G; p.E104G; 1:27154024-27154024	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.1501delC; p.L502fs*2; 1:27103297-27103297	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1264C>T; p.L422F; 1:27107666-27107666	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1204A>C; p.T402P; 1:27107726-27107726	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.873C>T; p.I291I; 1:27109718-27109718	skin	malignant_melanoma	Substitution - coding silent
c.567C>T; p.I189I; 1:27114072-27114072	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.567C>T; p.I189I; 1:27114072-27114072	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.919C>A; p.L307I; 1:27109672-27109672	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1629C>T; p.H543H; 1:27102690-27102690	breast	carcinoma	Substitution - coding silent
c.475G>A; p.D159N; 1:27114164-27114164	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2325C>T; p.D775D; 1:27100430-27100430	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2360G>T; p.S787I; 1:27100395-27100395	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.706G>A; p.A236T; 1:27113933-27113933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.706G>A; p.A236T; 1:27113933-27113933	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.706G>A; p.A236T; 1:27113933-27113933	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2252T>G; p.V751G; 1:27100503-27100503	breast	carcinoma	Substitution - Missense
c.1498C>T; p.R500W; 1:27103300-27103300	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2054C>T; p.T685M; 1:27101259-27101259	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2054C>T; p.T685M; 1:27101259-27101259	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1498C>T; p.R500W; 1:27103300-27103300	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1933C>T; p.R645W; 1:27102018-27102018	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1933C>T; p.R645W; 1:27102018-27102018	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1933C>T; p.R645W; 1:27102018-27102018	large_intestine; colon	carcinoma	Substitution - Missense
c.1933C>T; p.R645W; 1:27102018-27102018	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.309C>T; p.F103F; 1:27154026-27154026	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.988G>A; p.E330K; 1:27109603-27109603	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.145T>G; p.S49A; 1:27154190-27154190	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1680G>C; p.K560N; 1:27102525-27102525	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2143C>T; p.P715S; 1:27100612-27100612	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.585G>A; p.V195V; 1:27114054-27114054	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.565A>C; p.I189L; 1:27114074-27114074	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1345C>T; p.Q449*; 1:27106025-27106025	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1095C>T; p.P365P; 1:27107835-27107835	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1821-1G>T; p.?; 1:27102131-27102131	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.1833delC; p.K612fs*24; 1:27102118-27102118	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift

COSMIC somatic mutation [Top]