Entrez Gene

Basic Information
Gene ID	3885
Name	KRT34
Synonymous	keratin 34, type I;KRT34;keratin 34, type I
Definition	K34\|hair keratin, type I Ha4\|hard keratin, type I, 4\|keratin, hair, acidic, 4\|keratin, type I cuticular Ha4\|keratin-34
Position	17q21.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1004G>A; p.R335Q; 17:41379175-41379175	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.975G>A; p.E325E; 17:41379380-41379380	skin	malignant_melanoma	Substitution - coding silent
c.564G>T; p.Q188H; 17:41381206-41381206	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.878C>T; p.T293I; 17:41379477-41379477	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.1182G>T; p.E394D; 17:41378997-41378997	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.164G>A; p.R55H; 17:41382209-41382209	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.208G>A; p.G70S; 17:41382165-41382165	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.319G>A; p.D107N; 17:41382054-41382054	skin	malignant_melanoma	Substitution - Missense
c.679G>T; p.E227*; 17:41381091-41381091	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.796G>A; p.V266I; 17:41379650-41379650	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.292G>A; p.E98K; 17:41382081-41382081	breast	carcinoma	Substitution - Missense
c.1006G>T; p.D336Y; 17:41379173-41379173	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.241G>A; p.A81T; 17:41382132-41382132	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.241G>A; p.A81T; 17:41382132-41382132	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.982C>A; p.L328M; 17:41379373-41379373	breast	carcinoma	Substitution - Missense
c.478C>T; p.L160L; 17:41381792-41381792	NS	NS	Substitution - coding silent
c.227C>T; p.A76V; 17:41382146-41382146	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.227C>T; p.A76V; 17:41382146-41382146	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.613C>T; p.R205C; 17:41381157-41381157	breast	carcinoma	Substitution - Missense
c.51G>A; p.Q17Q; 17:41382322-41382322	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1244C>T; p.A415V; 17:41378126-41378126	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.684G>A; p.E228E; 17:41381086-41381086	skin	malignant_melanoma	Substitution - coding silent
c.908G>T; p.S303I; 17:41379447-41379447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1122G>T; p.L374L; 17:41379057-41379057	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1203C>G; p.L401L; 17:41378976-41378976	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.832G>A; p.V278M; 17:41379614-41379614	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1003-5C>A; p.?; 17:41379181-41379181	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Unknown
c.655G>A; p.E219K; 17:41381115-41381115	skin	malignant_melanoma	Substitution - Missense
c.20delC; p.P7fs*7; 17:41382353-41382353	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Deletion - Frameshift
c.381G>T; p.E127D; 17:41381992-41381992	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.475-1G>A; p.?; 17:41381796-41381796	lung	carcinoma; adenocarcinoma	Unknown
c.1310G>C; p.*437S; 17:41378060-41378060	breast	carcinoma	Nonstop extension
c.598G>T; p.D200Y; 17:41381172-41381172	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1229C>A; p.P410H; 17:41378141-41378141	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.568G>A; p.E190K; 17:41381202-41381202	skin	malignant_melanoma	Substitution - Missense
c.235A>C; p.I79L; 17:41382138-41382138	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1158C>T; p.D386D; 17:41379021-41379021	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1026G>A; p.L342L; 17:41379153-41379153	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1034G>A; p.S345N; 17:41379145-41379145	skin	malignant_melanoma	Substitution - Missense
c.1086C>T; p.N362N; 17:41379093-41379093	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.478C>G; p.L160V; 17:41381792-41381792	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1125G>T; p.E375D; 17:41379054-41379054	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1029G>A; p.T343T; 17:41379150-41379150	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1086C>T; p.N362N; 17:41379093-41379093	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1150C>T; p.L384L; 17:41379029-41379029	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.893A>T; p.K298M; 17:41379462-41379462	breast	carcinoma	Substitution - Missense
c.879C>A; p.T293T; 17:41379476-41379476	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.652C>A; p.L218M; 17:41381118-41381118	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.652C>A; p.L218M; 17:41381118-41381118	large_intestine; colon	carcinoma	Substitution - Missense
c.652C>A; p.L218M; 17:41381118-41381118	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.210C>T; p.G70G; 17:41382163-41382163	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.516C>G; p.N172K; 17:41381754-41381754	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.283A>G; p.N95D; 17:41382090-41382090	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.959C>A; p.T320K; 17:41379396-41379396	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1216G>A; p.D406N; 17:41378963-41378963	skin	malignant_melanoma	Substitution - Missense
c.864G>C; p.W288C; 17:41379582-41379582	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.969C>T; p.A323A; 17:41379386-41379386	skin	malignant_melanoma	Substitution - coding silent
c.77A>G; p.H26R; 17:41382296-41382296	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.756C>T; p.N252N; 17:41379690-41379690	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.756C>T; p.N252N; 17:41379690-41379690	central_nervous_system; brain	glioma	Substitution - coding silent
c.408G>T; p.Q136H; 17:41381965-41381965	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.618G>A; p.R206R; 17:41381152-41381152	skin	malignant_melanoma	Substitution - coding silent
c.974A>G; p.E325G; 17:41379381-41379381	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.614G>A; p.R205H; 17:41381156-41381156	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.137G>A; p.S46N; 17:41382236-41382236	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.247G>A; p.V83M; 17:41382126-41382126	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1159G>A; p.V387M; 17:41379020-41379020	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1159G>A; p.V387M; 17:41379020-41379020	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.666G>A; p.V222V; 17:41381104-41381104	skin	malignant_melanoma	Substitution - coding silent
c.1004G>T; p.R335L; 17:41379175-41379175	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.252C>A; p.S84R; 17:41382121-41382121	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.252C>A; p.S84R; 17:41382121-41382121	liver	carcinoma	Substitution - Missense
c.1286C>A; p.T429N; 17:41378084-41378084	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.930C>T; p.C310C; 17:41379425-41379425	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.835G>T; p.E279*; 17:41379611-41379611	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1169G>A; p.R390Q; 17:41379010-41379010	skin	malignant_melanoma	Substitution - Missense
c.1169G>A; p.R390Q; 17:41379010-41379010	skin	malignant_melanoma	Substitution - Missense
c.1169G>A; p.R390Q; 17:41379010-41379010	skin	malignant_melanoma	Substitution - Missense
c.273G>C; p.E91D; 17:41382100-41382100	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.207C>A; p.H69Q; 17:41382166-41382166	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1173G>A; p.L391L; 17:41379006-41379006	ovary	other; neoplasm	Substitution - coding silent
c.221C>A; p.P74H; 17:41382152-41382152	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.372G>A; p.A124A; 17:41382001-41382001	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.372G>A; p.A124A; 17:41382001-41382001	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.372G>A; p.A124A; 17:41382001-41382001	prostate	carcinoma	Substitution - coding silent
c.456T>C; p.I152I; 17:41381917-41381917	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.441C>A; p.S147S; 17:41381932-41381932	liver	carcinoma	Substitution - coding silent
c.880G>A; p.E294K; 17:41379475-41379475	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.441C>A; p.S147S; 17:41381932-41381932	liver	carcinoma	Substitution - coding silent
c.966C>T; p.N322N; 17:41379389-41379389	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.177C>T; p.S59S; 17:41382196-41382196	skin	malignant_melanoma	Substitution - coding silent
c.144C>A; p.C48*; 17:41382229-41382229	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.144C>A; p.C48*; 17:41382229-41382229	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1162C>A; p.R388S; 17:41379017-41379017	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1043A>G; p.H348R; 17:41379136-41379136	thyroid	other; neoplasm	Substitution - Missense
c.185C>T; p.P62L; 17:41382188-41382188	skin	malignant_melanoma	Substitution - Missense
c.198_199insC; p.S67fs*25; 17:41382174-41382175	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.586T>C; p.L196L; 17:41381184-41381184	liver	carcinoma	Substitution - coding silent
c.586T>C; p.L196L; 17:41381184-41381184	liver	carcinoma	Substitution - coding silent
c.1243G>A; p.A415T; 17:41378127-41378127	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1243G>A; p.A415T; 17:41378127-41378127	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1243G>A; p.A415T; 17:41378127-41378127	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.781G>A; p.V261M; 17:41379665-41379665	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.362_363GG>TT; p.R121>?; 17:41382010-41382011	lung	carcinoma; adenocarcinoma	Complex
c.1228C>A; p.P410T; 17:41378142-41378142	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.567G>A; p.T189T; 17:41381203-41381203	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.844C>T; p.R282C; 17:41379602-41379602	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.756C>G; p.N252K; 17:41379690-41379690	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1111C>T; p.R371C; 17:41379068-41379068	skin	malignant_melanoma	Substitution - Missense
c.107C>T; p.S36F; 17:41382266-41382266	skin	malignant_melanoma	Substitution - Missense
c.107C>T; p.S36F; 17:41382266-41382266	skin	malignant_melanoma	Substitution - Missense
c.715-1G>A; p.?; 17:41379732-41379732	skin	malignant_melanoma	Unknown
c.114delC; p.C39fs*45; 17:41382259-41382259	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.291C>T; p.S97S; 17:41382082-41382082	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.291C>T; p.S97S; 17:41382082-41382082	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1223+10delG; p.?; 17:41378946-41378946	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Unknown
c.624G>A; p.L208L; 17:41381146-41381146	skin	malignant_melanoma	Substitution - coding silent
c.350G>A; p.R117H; 17:41382023-41382023	central_nervous_system; brain	glioma	Substitution - Missense
c.839T>C; p.I280T; 17:41379607-41379607	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.463C>A; p.L155I; 17:41381910-41381910	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1174G>C; p.E392Q; 17:41379005-41379005	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.185_186CC>TT; p.P62L; 17:41382187-41382188	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.905C>T; p.S302F; 17:41379450-41379450	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.905C>T; p.S302F; 17:41379450-41379450	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1107G>T; p.E369D; 17:41379072-41379072	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1028C>T; p.T343M; 17:41379151-41379151	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1028C>T; p.T343M; 17:41379151-41379151	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1028C>T; p.T343M; 17:41379151-41379151	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.474+6delG; p.?; 17:41381893-41381893	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Unknown
c.554G>A; p.S185N; 17:41381716-41381716	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.757G>A; p.V253M; 17:41379689-41379689	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.181C>T; p.R61W; 17:41382192-41382192	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.757G>A; p.V253M; 17:41379689-41379689	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1308T>C; p.N436N; 17:41378062-41378062	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.701A>C; p.K234T; 17:41381069-41381069	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1126C>T; p.R376W; 17:41379053-41379053	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

COSMIC somatic mutation [Top]