| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 10938 |
Name | EHD1 |
Synonymous | H-PAST|HPAST1|PAST|PAST1;EH-domain containing 1;EHD1;EH-domain containing 1 |
Definition | EH domain-containing protein 1|PAST homolog 1|testilin |
Position | 11q13 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for EHD1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
EHD1_G431S; chr11; 64622119 |
SUB; MISSENSE; C; C/T; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.37A>C; p.K13Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.206C>T; p.T69M; |
pancreas | carcinoma; acinar_carcinoma |
c.1172C>T; p.A391V; |
large_intestine; colon | carcinoma |
c.1586C>T; p.S529F; |
lung | carcinoma; adenocarcinoma |
c.551G>A; p.R184H; |
lung | carcinoma; adenocarcinoma |
c.520G>A; p.V174I; |
prostate | carcinoma |
c.419delA; p.Q140fs*64; |
ovary | carcinoma; serous_carcinoma |
c.135C>T; p.F45F; |
lung | carcinoma; squamous_cell_carcinoma |
c.938C>G; p.S313C; |
ovary | carcinoma; serous_carcinoma |
c.741C>T; p.P247P; |
ovary | carcinoma; serous_carcinoma |
c.879G>T; p.K293N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1348G>A; p.E450K; |
lung | carcinoma; adenocarcinoma |
c.741delC; p.E248fs*50; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.588C>T; p.I196I; |
breast | carcinoma |
c.724A>G; p.K242E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1388C>T; p.T463M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.603G>A; p.S201S; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.945G>T; p.K315N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1173G>T; p.A391A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.919C>T; p.H307Y; |
breast | carcinoma |
c.1362G>A; p.T454T; |
breast | carcinoma |
c.196C>T; p.Q66*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.251C>T; p.P84L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.538G>A; p.E180K; |
breast | carcinoma |
c.78G>A; p.R26R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.868G>A; p.A290T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1404G>T; p.K468N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1164C>T; p.N388N; |
breast | carcinoma |
c.124T>G; p.F42V; |
breast | carcinoma |
c.1266C>A; p.F422L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1263G>A; p.P421P; |
prostate | carcinoma; adenocarcinoma |