| General information | Literature | Expression | Regulation | Mutation | Homolog | Interaction |
Basic Information | |
|---|---|
Gene ID | 5954 |
Name | RCN1 |
Synonymous | reticulocalbin 1, EF-hand calcium binding domain;RCN1;reticulocalbin 1, EF-hand calcium binding domain |
Definition | epididymis secretory protein Li 84|proliferation-inducing gene 20|reticulocalbin-1 |
Position | 11p13 |
Gene Type | protein-coding |
COSMIC somatic mutation [Top] | |||
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.124G>T; p.D42Y; 11:32091320-32091320 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.184G>A; p.A62T; 11:32091380-32091380 |
breast | carcinoma | Substitution - Missense |
c.303T>C; p.T101T; 11:32097192-32097192 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.274G>A; p.D92N; 11:32097163-32097163 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.19G>C; p.G7R; 11:32091215-32091215 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.509G>A; p.R170H; 11:32098410-32098410 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.509G>A; p.R170H; 11:32098410-32098410 |
endometrium | carcinoma; serous_carcinoma | Substitution - Missense |
c.963G>T; p.G321G; 11:32104439-32104439 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.210G>C; p.K70N; 11:32091406-32091406 |
kidney | carcinoma; renal_cell_carcinoma | Substitution - Missense |
c.210G>C; p.K70N; 11:32091406-32091406 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.613G>A; p.E205K; 11:32098514-32098514 |
skin | malignant_melanoma | Substitution - Missense |
c.449G>T; p.G150V; 11:32098350-32098350 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.351T>G; p.F117L; 11:32097240-32097240 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.689C>G; p.A230G; 11:32103281-32103281 |
genital_tract; extragonadal | germ_cell_tumour; yolk_sac_tumour | Substitution - Missense |
c.676G>A; p.D226N; 11:32100596-32100596 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.830A>T; p.D277V; 11:32103422-32103422 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.804G>C; p.E268D; 11:32103396-32103396 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.312G>C; p.L104L; 11:32097201-32097201 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.706_708delGAG; p.E237delE; 11:32103298-32103300 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.481C>T; p.H161Y; 11:32098382-32098382 |
skin | malignant_melanoma | Substitution - Missense |
c.481C>T; p.H161Y; 11:32098382-32098382 |
skin | malignant_melanoma | Substitution - Missense |
c.510T>C; p.R170R; 11:32098411-32098411 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.679G>A; p.E227K; 11:32100599-32100599 |
skin | malignant_melanoma | Substitution - Missense |
c.655G>A; p.G219R; 11:32100575-32100575 |
breast | carcinoma | Substitution - Missense |
c.539T>A; p.L180H; 11:32098440-32098440 |
breast | carcinoma | Substitution - Missense |
c.517A>G; p.R173G; 11:32098418-32098418 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.819C>T; p.I273I; 11:32103411-32103411 |
skin | malignant_melanoma | Substitution - coding silent |
c.559A>T; p.T187S; 11:32098460-32098460 |
breast | carcinoma; basal_(triple-negative)_carcinoma | Substitution - Missense |
c.388G>A; p.D130N; 11:32097277-32097277 |
skin | malignant_melanoma | Substitution - Missense |
c.308A>G; p.E103G; 11:32097197-32097197 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.577G>T; p.A193S; 11:32098478-32098478 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.548A>G; p.D183G; 11:32098449-32098449 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.401A>C; p.K134T; 11:32097290-32097290 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.348C>A; p.I116I; 11:32097237-32097237 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.808C>T; p.R270C; 11:32103400-32103400 |
skin | malignant_melanoma | Substitution - Missense |
c.260T>C; p.I87T; 11:32097149-32097149 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.808C>T; p.R270C; 11:32103400-32103400 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.128C>T; p.S43L; 11:32091324-32091324 |
breast | carcinoma | Substitution - Missense |
c.862C>T; p.L288L; 11:32103454-32103454 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.798A>T; p.K266N; 11:32103390-32103390 |
liver | carcinoma | Substitution - Missense |
c.798A>T; p.K266N; 11:32103390-32103390 |
liver | carcinoma | Substitution - Missense |
c.883A>T; p.N295Y; 11:32103475-32103475 |
breast | carcinoma | Substitution - Missense |
c.198G>T; p.K66N; 11:32091394-32091394 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.419A>G; p.Y140C; 11:32097308-32097308 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.907G>A; p.E303K; 11:32104383-32104383 |
skin | malignant_melanoma | Substitution - Missense |
c.268C>T; p.R90*; 11:32097157-32097157 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.384T>C; p.D128D; 11:32097273-32097273 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.205T>C; p.S69P; 11:32091401-32091401 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.886A>G; p.K296E; 11:32103478-32103478 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.784G>T; p.G262W; 11:32103376-32103376 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.360C>T; p.V120V; 11:32097249-32097249 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.846G>T; p.Q282H; 11:32103438-32103438 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.329G>A; p.R110Q; 11:32097218-32097218 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.329G>A; p.R110Q; 11:32097218-32097218 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.988G>A; p.E330K; 11:32104464-32104464 |
skin | malignant_melanoma | Substitution - Missense |
c.438T>C; p.G146G; 11:32097327-32097327 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.672T>C; p.D224D; 11:32100592-32100592 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.967G>T; p.D323Y; 11:32104443-32104443 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.910G>A; p.E304K; 11:32104386-32104386 |
skin | malignant_melanoma | Substitution - Missense |
c.137G>T; p.G46V; 11:32091333-32091333 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.881A>C; p.K294T; 11:32103473-32103473 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.703C>T; p.H235Y; 11:32103295-32103295 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.278A>C; p.N93T; 11:32097167-32097167 |
oesophagus | carcinoma | Substitution - Missense |
c.469G>A; p.D157N; 11:32098370-32098370 |
skin | malignant_melanoma | Substitution - Missense |
c.469G>A; p.D157N; 11:32098370-32098370 |
skin | malignant_melanoma | Substitution - Missense |