| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 30010 |
Name | NXPH1 |
Synonymous | NPH1;neurexophilin 1;NXPH1;neurexophilin 1 |
Definition | neurexophilin-1 |
Position | 7p22 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for NXPH1 | ||
PCGP somatic mutation [Top] | ||
There is no record for NXPH1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.348G>T; p.K116N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.341A>T; p.K114M; |
liver | carcinoma |
c.512C>T; p.T171I; 7:8757620-8757620 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.112A>G; p.S38G; |
oesophagus | carcinoma; adenocarcinoma |
c.136T>C; p.W46R; |
oesophagus | carcinoma; adenocarcinoma |
c.87G>T; p.K29N; |
liver | carcinoma |
c.546C>A; p.T182T; |
lung | carcinoma; adenocarcinoma |
c.62G>A; p.C21Y; |
lung | carcinoma; adenocarcinoma |
c.739A>T; p.T247S; |
lung | carcinoma; adenocarcinoma |
c.501G>T; p.L167F; |
lung | carcinoma; adenocarcinoma |
c.159G>T; p.L53F; |
lung | carcinoma; adenocarcinoma |
c.359G>T; p.G120V; |
liver | carcinoma |
c.190C>T; p.R64C; |
lung | carcinoma; squamous_cell_carcinoma |
c.114C>A; p.S38R; |
lung | carcinoma; squamous_cell_carcinoma |
c.349A>G; p.K117E; 7:8757457-8757457 |
ovary | carcinoma; serous_carcinoma |
c.57C>G; p.V19V; |
lung | carcinoma; adenocarcinoma |
c.190C>A; p.R64S; |
lung | carcinoma; squamous_cell_carcinoma |
c.62G>T; p.C21F; |
lung | carcinoma; adenocarcinoma |
c.596A>G; p.E199G; |
lung | carcinoma; adenocarcinoma |
c.535G>A; p.A179T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.511A>G; p.T171A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.549G>T; p.V183V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.511A>G; p.T171A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.154G>A; p.D52N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.170G>A; p.R57Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.562G>T; p.D188Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.447T>C; p.F149F; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3G>A; p.M1I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.695C>T; p.S232F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.317G>T; p.R106I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.160T>C; p.S54P; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.201G>T; p.E67D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.567C>T; p.S189S; |
breast | carcinoma |
c.348G>T; p.K116N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.367G>A; p.D123N; |
urinary_tract; bladder | carcinoma |
c.377C>T; p.S126F; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.482G>T; p.G161V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.349A>G; p.K117E; 7:8757457-8757457 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.74C>T; p.T25M; |
breast | carcinoma |
c.644C>T; p.S215L; |
breast | carcinoma |
c.712A>T; p.I238F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.679G>A; p.V227I; |
large_intestine; caecum | carcinoma; adenocarcinoma |