Entrez Gene

Basic Information
Gene ID	8974
Name	P4HA2
Synonymous	prolyl 4-hydroxylase, alpha polypeptide II;P4HA2;prolyl 4-hydroxylase, alpha polypeptide II
Definition	4-PH alpha 2\|4-PH alpha-2\|C-P4Halpha(II)\|collagen prolyl 4-hydroxylase alpha(II)\|procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II\|procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-2\|prolyl 4-hydr
Position	5q31
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1344delG; p.N449fs*7; 5:132198233-132198233	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1402G>A; p.V468I; 5:132195450-132195450	stomach	carcinoma; mixed_intestinal_and_diffuse_adenocarcinoma-unclassifiable	Substitution - Missense
c.916C>T; p.Q306*; 5:132207872-132207872	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1402G>A; p.V468I; 5:132195450-132195450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1411G>C; p.D471H; 5:132195441-132195441	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1415T>G; p.L472R; 5:132195437-132195437	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.993C>T; p.D331D; 5:132207795-132207795	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.595G>T; p.G199W; 5:132210398-132210398	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.901C>T; p.L301L; 5:132209140-132209140	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.296C>T; p.A99V; 5:132217232-132217232	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.64G>A; p.E22K; 5:132218563-132218563	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.912T>C; p.R304R; 5:132207876-132207876	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1006C>A; p.P336T; 5:132207782-132207782	breast	carcinoma	Substitution - Missense
c.493A>C; p.S165R; 5:132210500-132210500	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.524C>T; p.S175L; 5:132210469-132210469	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.524C>T; p.S175L; 5:132210469-132210469	skin	malignant_melanoma	Substitution - Missense
c.873G>A; p.E291E; 5:132209168-132209168	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - coding silent
c.1129G>A; p.A377T; 5:132204104-132204104	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1129G>A; p.A377T; 5:132204104-132204104	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1497A>T; p.T499T; 5:132194966-132194966	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1005C>T; p.S335S; 5:132207783-132207783	skin	malignant_melanoma	Substitution - coding silent
c.1081-1G>T; p.?; 5:132204153-132204153	pancreas	carcinoma	Unknown
c.674G>A; p.R225H; 5:132210319-132210319	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.871G>T; p.E291*; 5:132209170-132209170	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.63C>T; p.A21A; 5:132218564-132218564	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.307C>T; p.L103F; 5:132217221-132217221	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	Substitution - Missense
c.208A>T; p.S70C; 5:132217320-132217320	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1006C>T; p.P336S; 5:132207782-132207782	skin	malignant_melanoma	Substitution - Missense
c.148G>T; p.V50L; 5:132217783-132217783	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.286G>T; p.D96Y; 5:132217242-132217242	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.630G>T; p.L210L; 5:132210363-132210363	skin	malignant_melanoma	Substitution - coding silent
c.836G>T; p.R279M; 5:132209205-132209205	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1308T>C; p.N436N; 5:132198269-132198269	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1294G>A; p.D432N; 5:132198890-132198890	endometrium	carcinoma; serous_carcinoma	Substitution - Missense
c.1294G>A; p.D432N; 5:132198890-132198890	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1526G>A; p.G509D; 5:132194937-132194937	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1199G>A; p.R400H; 5:132203800-132203800	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.998G>C; p.W333S; 5:132207790-132207790	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.136G>T; p.E46*; 5:132217795-132217795	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.695G>A; p.R232H; 5:132210298-132210298	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1473G>C; p.R491R; 5:132194990-132194990	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1537+9C>G; p.?; 5:132194917-132194917	liver	carcinoma	Unknown
c.1537+9C>G; p.?; 5:132194917-132194917	liver	carcinoma	Unknown
c.1537+9C>G; p.?; 5:132194917-132194917	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.1419G>T; p.G473G; 5:132195433-132195433	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.269T>C; p.V90A; 5:132217259-132217259	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.721G>A; p.E241K; 5:132209320-132209320	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1110G>T; p.K370N; 5:132204123-132204123	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1293C>T; p.F431F; 5:132198891-132198891	liver	carcinoma	Substitution - coding silent
c.1293C>T; p.F431F; 5:132198891-132198891	prostate	carcinoma	Substitution - coding silent
c.1293C>T; p.F431F; 5:132198891-132198891	liver	carcinoma	Substitution - coding silent
c.346C>T; p.L116F; 5:132214039-132214039	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1493G>A; p.R498Q; 5:132194970-132194970	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.520C>T; p.R174C; 5:132210473-132210473	prostate	carcinoma	Substitution - Missense
c.861G>A; p.R287R; 5:132209180-132209180	prostate	carcinoma	Substitution - coding silent
c.861G>A; p.R287R; 5:132209180-132209180	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.692G>A; p.R231H; 5:132210301-132210301	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1287G>A; p.P429P; 5:132198897-132198897	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1287G>A; p.P429P; 5:132198897-132198897	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1287G>A; p.P429P; 5:132198897-132198897	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1353G>A; p.V451V; 5:132198224-132198224	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.323C>G; p.S108*; 5:132217205-132217205	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1463A>G; p.N488S; 5:132195000-132195000	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.743G>T; p.R248L; 5:132209298-132209298	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1051G>A; p.E351K; 5:132207737-132207737	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1381G>A; p.V461I; 5:132195471-132195471	skin; trunk	malignant_melanoma	Substitution - Missense
c.735G>C; p.G245G; 5:132209306-132209306	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1573T>C; p.F525L; 5:132193045-132193045	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1198C>T; p.R400C; 5:132203801-132203801	skin	malignant_melanoma	Substitution - Missense
c.1198C>T; p.R400C; 5:132203801-132203801	skin	malignant_melanoma	Substitution - Missense
c.1198C>T; p.R400C; 5:132203801-132203801	skin	malignant_melanoma	Substitution - Missense
c.340G>A; p.A114T; 5:132214045-132214045	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1069G>A; p.A357T; 5:132207719-132207719	skin	malignant_melanoma	Substitution - Missense
c.1069G>A; p.A357T; 5:132207719-132207719	breast	carcinoma	Substitution - Missense
c.1401C>A; p.T467T; 5:132195451-132195451	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.870C>T; p.Y290Y; 5:132209171-132209171	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.691C>T; p.R231C; 5:132210302-132210302	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1090G>A; p.A364T; 5:132204143-132204143	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.709G>T; p.D237Y; 5:132210284-132210284	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.594C>A; p.A198A; 5:132210399-132210399	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1465C>A; p.L489I; 5:132194998-132194998	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.903+2T>A; p.?; 5:132209136-132209136	breast	carcinoma; basal_(triple-negative)_carcinoma	Unknown
c.1228G>A; p.V410I; 5:132203771-132203771	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1362C>A; p.F454L; 5:132198215-132198215	breast	carcinoma	Substitution - Missense
c.1152-1G>A; p.?; 5:132203848-132203848	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1087C>T; p.R363*; 5:132204146-132204146	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1015G>A; p.V339I; 5:132207773-132207773	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1015G>A; p.V339I; 5:132207773-132207773	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.97C>A; p.L33M; 5:132217834-132217834	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.555G>A; p.T185T; 5:132210438-132210438	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.97C>A; p.L33M; 5:132217834-132217834	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1420delG; p.A474fs*53; 5:132195432-132195432	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.994G>A; p.E332K; 5:132207794-132207794	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1537+2T>G; p.?; 5:132194924-132194924	skin	malignant_melanoma	Unknown
c.501T>C; p.D167D; 5:132210492-132210492	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.69C>T; p.F23F; 5:132218558-132218558	skin	malignant_melanoma	Substitution - coding silent
c.910C>T; p.R304C; 5:132207878-132207878	breast	carcinoma	Substitution - Missense

COSMIC somatic mutation [Top]