| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 27156 |
Name | RTDR1 |
Synonymous | -;rhabdoid tumor deletion region gene 1;RTDR1;rhabdoid tumor deletion region gene 1 |
Definition | rhabdoid tumor deletion region protein 1 |
Position | 22q11.2 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for RTDR1 | ||
PCGP somatic mutation [Top] | ||
There is no record for RTDR1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.987G>A; p.V329V; |
NS | malignant_melanoma |
c.987G>A; p.V329V; |
NS | malignant_melanoma |
c.892A>G; p.M298V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.794A>C; p.K265T; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.148T>C; p.L50L; |
stomach | carcinoma; adenocarcinoma |
c.397A>C; p.M133L; |
liver | carcinoma; hepatocellular_carcinoma |
c.909delC; p.E304fs*>45; |
lung | carcinoma; adenocarcinoma |
c.789A>C; p.E263D; |
liver | carcinoma |
c.327C>A; p.I109I; |
prostate | carcinoma |
c.972C>T; p.Y324Y; 22:21731715-21731715 |
ovary | carcinoma; serous_carcinoma |
c.619C>A; p.R207S; |
lung | carcinoma; squamous_cell_carcinoma |
c.834G>T; p.L278L; |
lung | carcinoma; squamous_cell_carcinoma |
c.800C>T; p.A267V; |
lung | carcinoma; adenocarcinoma |
c.115G>T; p.D39Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.338T>C; p.L113P; |
ovary | carcinoma; serous_carcinoma |
c.964G>T; p.E322*; |
lung | carcinoma; adenocarcinoma |
c.306C>T; p.Y102Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.73C>A; p.H25N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.635G>A; p.R212H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.757G>A; p.G253S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1033G>A; p.E345K; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.594G>T; p.K198N; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.321C>T; p.H107H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.864G>A; p.A288A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.979C>T; p.P327S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1018G>A; p.A340T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.563delG; p.G188fs*8; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1003C>T; p.R335W; |
breast | carcinoma |
c.1004G>A; p.R335Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.93G>A; p.L31L; |
urinary_tract; bladder | carcinoma |
c.367G>A; p.V123I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.956T>C; p.M319T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.435C>A; p.I145I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.631G>A; p.A211T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.870G>T; p.L290L; |
breast | carcinoma |
c.696C>T; p.V232V; |
urinary_tract; bladder | carcinoma |
c.548C>A; p.A183D; |
skin | malignant_melanoma |
c.643C>T; p.L215F; |
skin | malignant_melanoma |
c.973G>A; p.E325K; |
skin | malignant_melanoma |