| General information | Literature | Expression | Regulation | Variant | Interaction |
|
Basic Information |
|
|---|---|
Gene ID | 94 |
Name | ACVRL1 |
Synonymous | ACVRLK1|ALK-1|ALK1|HHT|HHT2|ORW2|SKR3|TSR-I;activin A receptor type II-like 1;ACVRL1;activin A receptor type II-like 1 |
Definition | TGF-B superfamily receptor type I|activin A receptor, type II-like kinase 1|serine/threonine-protein kinase receptor R3 |
Position | 12q13.13 |
Gene Type | protein-coding |
Gene Mutation: | GWAS results PAH samples Lung cancer |
GWAS results [Top] | ||
There is no record for ACVRL1 | ||
Lung cancer [Top] | ||
|
Mutation (Type; AA; Chr) |
Site |
Histology |
|---|---|---|
p.V429V; chr12:52312809-52312809 |
lung | adenocarcinoma; carcinoma |
p.G211G; chr12:52308230-52308230 |
lung | adenocarcinoma; carcinoma |
p.T45N; chr12:52306955-52306955 |
lung | adenocarcinoma; carcinoma |
p.S356*; chr12:52309838-52309838 |
lung | adenocarcinoma; carcinoma |
p.G9R; chr12:52306283-52306283 |
lung | squamous_cell_carcinoma; carcinoma |
p.S333R; chr12:52309235-52309235 |
lung | adenocarcinoma; carcinoma |
p.T35K; chr12:52306925-52306925 |
lung | squamous_cell_carcinoma; carcinoma |
p.R47R; chr12:52306962-52306962 |
lung | adenocarcinoma; carcinoma |
p.K332N; chr12:52309232-52309232 |
lung | adenocarcinoma; carcinoma |
p.N431fs*8; chr12:52312812-52312812 |
lung | adenocarcinoma; carcinoma |
p.L455M; chr12:52312885-52312885 |
lung | adenocarcinoma; carcinoma |
p.S110L; chr12:52307358-52307358 |
lung | squamous_cell_carcinoma; carcinoma |
p.R411Q; chr12:52310003-52310003 |
lung | adenocarcinoma; carcinoma |
p.A49V; chr12:52306967-52306967 |
lung | adenocarcinoma; carcinoma |
p.I276I; chr12:52309064-52309064 |
lung | adenocarcinoma; carcinoma |