| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 50485 |
Name | SMARCAL1 |
Synonymous | HARP|HHARP;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1;SMARCAL1;SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 |
Definition | ATP-driven annealing helicase|HepA-related protein|SMARCA-like protein 1|SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1|sucrose nonfermenting protein 2-like 1 |
Position | 2q35 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for SMARCAL1 | ||
PCGP somatic mutation [Top] | ||
There is no record for SMARCAL1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.747G>T; p.Q249H; |
liver | carcinoma; hepatocellular_carcinoma |
c.938C>T; p.S313F; |
lung | carcinoma; small_cell_carcinoma |
c.2323G>T; p.E775*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1000C>T; p.R334*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1621A>C; p.T541P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1622C>A; p.T541N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1622C>T; p.T541I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1849C>T; p.R617W; |
oesophagus | carcinoma; adenocarcinoma |
c.1974G>A; p.Q658Q; |
liver | carcinoma |
c.1294C>G; p.L432V; 2:217001710-217001710 |
breast | carcinoma; ductal_carcinoma |
c.1294C>G; p.L432V; 2:217001710-217001710 |
breast | carcinoma; ductal_carcinoma |
c.1248C>A; p.L416L; 2:217001664-217001664 |
breast | carcinoma; ductal_carcinoma |
c.239C>A; p.S80Y; |
liver | carcinoma |
c.205G>A; p.V69I; |
liver | carcinoma |
c.781G>T; p.V261L; |
lung | carcinoma; adenocarcinoma |
c.976C>G; p.P326A; |
lung | carcinoma; adenocarcinoma |
c.108T>C; p.T36T; |
lung | carcinoma; adenocarcinoma |
c.1064C>T; p.A355V; 2:216993468-216993468 |
skin | malignant_melanoma |
c.1238C>G; p.S413C; |
liver | carcinoma; hepatocellular_carcinoma |
c.2658C>G; p.F886L; |
pancreas | carcinoma; ductal_carcinoma |
c.2658C>G; p.F886L; |
NS | NS |
c.335G>A; p.S112N; |
liver | carcinoma |
c.1488C>T; p.A496A; |
lung | carcinoma; small_cell_carcinoma |
c.2349C>A; p.S783S; |
autonomic_ganglia | neuroblastoma |
c.1776G>A; p.T592T; 2:217020051-217020051 |
ovary | carcinoma; serous_carcinoma |
c.596C>G; p.P199R; 2:216988268-216988268 |
ovary | carcinoma; serous_carcinoma |
c.2125A>G; p.K709E; |
lung | carcinoma; squamous_cell_carcinoma |
c.2226G>A; p.T742T; 2:217040996-217040996 |
ovary | carcinoma; serous_carcinoma |
c.2279C>T; p.S760L; |
lung | carcinoma; adenocarcinoma |
c.924C>G; p.S308R; |
lung | carcinoma; adenocarcinoma |
c.154G>C; p.G52R; |
lung | carcinoma; squamous_cell_carcinoma |
c.152A>C; p.Q51P; |
lung | carcinoma; squamous_cell_carcinoma |
c.1233G>C; p.K411N; |
lung | carcinoma; squamous_cell_carcinoma |
c.1852-2A>T; p.?; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.944G>A; p.S315N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.758G>T; p.G253V; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.104G>C; p.R35T; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1661T>A; p.L554H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.843G>A; p.M281I; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.67C>G; p.R23G; |
lung | carcinoma; squamous_cell_carcinoma |
c.1067T>C; p.L356P; |
lung | carcinoma; squamous_cell_carcinoma |
c.147C>T; p.A49A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2789C>T; p.S930L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2070T>C; p.T690T; |
breast | carcinoma |
c.2649C>T; p.Y883Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2225C>T; p.T742M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.968C>T; p.P323L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1795C>T; p.P599S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.443C>A; p.A148D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.614C>A; p.S205Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2478C>T; p.S826S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2090C>T; p.A697V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1099G>A; p.V367I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.61C>G; p.L21V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.518C>A; p.S173Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2290C>T; p.R764W; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1698G>T; p.M566I; |
breast | carcinoma |
c.67C>T; p.R23C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.736G>A; p.D246N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1134G>T; p.E378D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.390T>C; p.P130P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1029C>T; p.F343F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.812-1G>C; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2304C>A; p.C768*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1159C>T; p.R387C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1064C>T; p.A355V; 2:216993468-216993468 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.366C>A; p.I122I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1160G>A; p.R387H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1357C>T; p.R453C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.537T>C; p.H179H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.863-2A>T; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.638G>C; p.S213T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.445C>G; p.Q149E; |
breast | carcinoma |
c.542C>G; p.S181C; |
breast | carcinoma |
c.226C>A; p.L76I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1112A>C; p.K371T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.169T>G; p.F57V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.249C>G; p.D83E; |
prostate | carcinoma; adenocarcinoma |
c.2601A>G; p.T867T; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2324A>G; p.E775G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1793A>G; p.K598R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2687A>G; p.D896G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1000C>T; p.R334*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1775C>T; p.T592M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1776G>A; p.T592T; 2:217020051-217020051 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1159C>T; p.R387C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1030G>A; p.E344K; |
breast | carcinoma |
c.2542G>C; p.E848Q; |
urinary_tract; bladder | carcinoma |
c.1701G>A; p.P567P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2452G>A; p.V818M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.597T>C; p.P199P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.934C>T; p.P312S; |
skin | malignant_melanoma |
c.1761C>T; p.P587P; |
stomach | adenocarcinoma |