| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 6456 |
Name | SH3GL2 |
Synonymous | CNSA2|EEN-B1|SH3D2A|SH3P4;SH3-domain GRB2-like 2;SH3GL2;SH3-domain GRB2-like 2 |
Definition | Endophilin A1 BAR domain|SH3 domain protein 2A|SH3 domain-containing GRB2-like protein 2|bA335L15.1 (SH3-domain GRB2-like 2)|endophilin-1|endophilin-A1 |
Position | 9p22 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for SH3GL2 | ||
PCGP somatic mutation [Top] | ||
There is no record for SH3GL2 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.770C>T; p.P257L; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.175C>T; p.Q59*; |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma |
c.860G>C; p.G287A; |
lung | carcinoma; small_cell_carcinoma |
c.872A>G; p.D291G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.898G>A; p.D300N; |
skin; abdomen | malignant_melanoma |
c.940G>A; p.G314S; |
lung | carcinoma; small_cell_carcinoma |
c.160A>G; p.T54A; |
oesophagus | carcinoma; adenocarcinoma |
c.217A>G; p.T73A; |
oesophagus | carcinoma; adenocarcinoma |
c.904G>T; p.E302*; |
oesophagus | carcinoma; adenocarcinoma |
c.175C>T; p.Q59*; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.800C>A; p.T267N; |
oesophagus | carcinoma; adenocarcinoma |
c.12C>T; p.A4A; |
oesophagus | carcinoma; adenocarcinoma |
c.860G>C; p.G287A; |
lung | carcinoma; small_cell_carcinoma |
c.79A>G; p.T27A; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.922G>A; p.E308K; |
skin; head_neck | malignant_melanoma; superficial_spreading |
c.847C>T; p.P283S; |
lung | carcinoma; adenocarcinoma |
c.970G>C; p.D324H; |
lung | carcinoma; adenocarcinoma |
c.332G>T; p.G111V; |
lung | carcinoma; adenocarcinoma |
c.56A>T; p.E19V; |
lung | carcinoma; adenocarcinoma |
c.937G>T; p.E313*; |
lung | carcinoma; adenocarcinoma |
c.661G>A; p.A221T; |
lung | carcinoma; adenocarcinoma |
c.297A>C; p.K99N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.297A>C; p.K99N; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.919G>A; p.G307R; |
NS | malignant_melanoma |
c.191_192CC>AA; p.S64>?; |
lung | carcinoma; small_cell_carcinoma |
c.536C>T; p.P179L; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.1004A>T; p.H335L; |
autonomic_ganglia | neuroblastoma |
c.515A>T; p.K172M; |
lung | carcinoma; adenocarcinoma |
c.908C>A; p.P303H; |
lung | carcinoma; squamous_cell_carcinoma |
c.172C>A; p.L58I; |
lung | carcinoma; squamous_cell_carcinoma |
c.603G>T; p.M201I; |
lung | carcinoma; adenocarcinoma |
c.1000G>T; p.G334C; |
lung | carcinoma; adenocarcinoma |
c.505G>A; p.D169N; |
lung | carcinoma; squamous_cell_carcinoma |
c.837C>T; p.H279H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.571G>A; p.D191N; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.669_670GG>AT; p.E224*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.56A>T; p.E19V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.201G>T; p.K67N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.138T>A; p.A46A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.530A>G; p.K177R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.338C>T; p.A113V; |
breast | carcinoma |
c.536C>T; p.P179L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1002C>T; p.G334G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.336A>G; p.P112P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.328T>G; p.F110V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.947T>C; p.I316T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.943G>A; p.D315N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.156T>A; p.T52T; |
breast | carcinoma |
c.413A>C; p.N138T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.779G>A; p.R260Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.829C>T; p.L277F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.957C>A; p.L319L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1059G>T; p.*353Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.645C>A; p.L215L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1039C>A; p.L347M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.970G>A; p.D324N; |
breast | carcinoma |
c.583G>A; p.E195K; |
skin | malignant_melanoma |
c.989G>A; p.G330E; |
skin | malignant_melanoma |
c.185C>T; p.P62L; |
skin | malignant_melanoma |
c.551G>A; p.R184H; |
stomach | adenocarcinoma |