| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2674 |
Name | GFRA1 |
Synonymous | GDNFR|GDNFRA|GFR-ALPHA-1|RET1L|RETL1|TRNR1;GDNF family receptor alpha 1;GFRA1;GDNF family receptor alpha 1 |
Definition | GDNF family receptor alpha-1|GDNF receptor alpha-1|GDNFR-alpha-1|GPI-linked anchor protein|Glial cell line-derived neurotrophic factor receptor alpha|PI-linked cell-surface accessory protein|RET ligand 1|TGF-beta related neurotrophic factor receptor 1|TGF |
Position | 10q26.11 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for GFRA1 | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
GFRA1_E11_UTR_3; chr10; 117818134 |
SUB; UTR_3; G; G/A; SOMATIC | HYPO; VALID; WGS |
GFRA1_E11_UTR_3; chr10; 117818090 |
SUB; UTR_3; G; G/A; SOMATIC | HYPO; VALID; WGS |
GFRA1_N184N; chr10; 117884950 |
SUB; SILENT; G; G/A; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.596C>T; p.P199L; |
NS | malignant_melanoma |
c.596C>T; p.P199L; |
NS | malignant_melanoma |
c.164G>T; p.G55V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1100G>A; p.R367Q; |
oesophagus | carcinoma; adenocarcinoma |
c.777delT; p.F259fs*15; |
oesophagus | carcinoma; adenocarcinoma |
c.178T>G; p.F60V; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.735C>A; p.C245*; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.143C>T; p.T48M; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.134A>C; p.K45T; |
oesophagus | carcinoma; adenocarcinoma |
c.165C>A; p.G55G; |
oesophagus | carcinoma; adenocarcinoma |
c.1222C>T; p.L408F; |
oesophagus | carcinoma; adenocarcinoma |
c.537C>T; p.N179N; |
stomach | carcinoma; adenocarcinoma |
c.1027G>A; p.G343S; |
liver | carcinoma |
c.234C>A; p.A78A; |
lung | carcinoma; adenocarcinoma |
c.769G>A; p.D257N; |
lung | carcinoma; adenocarcinoma |
c.767C>A; p.A256E; |
lung | carcinoma; adenocarcinoma |
c.1063G>A; p.V355I; |
lung | carcinoma; adenocarcinoma |
c.647G>T; p.C216F; |
lung | carcinoma; adenocarcinoma |
c.421G>A; p.E141K; |
lung | carcinoma; adenocarcinoma |
c.859C>A; p.L287I; |
lung | carcinoma; adenocarcinoma |
c.1200C>G; p.S400S; |
lung | carcinoma; adenocarcinoma |
c.915C>A; p.A305A; |
lung | carcinoma; adenocarcinoma |
c.525delC; p.S176fs*64; |
liver | carcinoma; hepatocellular_carcinoma |
c.359delC; p.P120fs*120; |
central_nervous_system; posterior_fossa | glioma; astrocytoma_Grade_IV |
c.1041C>T; p.T347T; |
prostate | carcinoma |
c.665A>C; p.Q222P; |
pancreas | NS |
c.1225T>G; p.C409G; |
kidney | carcinoma; renal_cell_carcinoma |
c.1100G>C; p.R367P; |
lung | carcinoma; adenocarcinoma |
c.662G>T; p.R221L; 10:117874815-117874815 |
ovary | carcinoma; serous_carcinoma |
c.432C>G; p.P144P; |
ovary | carcinoma; serous_carcinoma |
c.686C>G; p.S229C; |
ovary | carcinoma; serous_carcinoma |
c.827A>T; p.N276I; |
ovary | carcinoma; serous_carcinoma |
c.356C>A; p.S119Y; |
lung | carcinoma; adenocarcinoma |
c.717G>A; p.L239L; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.632G>T; p.C211F; |
lung | carcinoma; adenocarcinoma |
c.477C>T; p.D159D; |
lung | carcinoma; adenocarcinoma |
c.1021G>C; p.G341R; |
lung | carcinoma; adenocarcinoma |
c.661C>T; p.R221*; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.786C>T; p.C262C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.689A>G; p.Y230C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1099C>T; p.R367W; |
lung | carcinoma; adenocarcinoma |
c.921G>T; p.W307C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.333G>T; p.Q111H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.553C>T; p.R185C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.137A>G; p.Y46C; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.831C>T; p.Y277Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.817C>A; p.L273I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.516G>A; p.P172P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.397C>T; p.R133W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.224C>T; p.A75V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.804T>A; p.S268S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.938G>A; p.S313N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.680T>C; p.V227A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1289C>A; p.S430*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.529G>A; p.V177M; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1369A>T; p.T457S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1106A>C; p.K369T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.499T>A; p.S167T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1209G>A; p.S403S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1182+2T>C; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.553C>T; p.R185C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.128G>A; p.S43N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1258C>A; p.L420I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1107G>T; p.K369N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.661C>T; p.R221*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.662G>T; p.R221L; 10:117874815-117874815 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.661C>T; p.R221*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.32C>T; p.P11L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.500C>T; p.S167L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.325A>C; p.S109R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1167G>A; p.P389P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.566A>G; p.K189R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.663A>T; p.R221R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.211G>C; p.E71Q; |
urinary_tract; bladder | carcinoma |
c.702G>T; p.E234D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.398G>A; p.R133Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1240A>C; p.N414H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1099C>T; p.R367W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.663A>G; p.R221R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.663A>G; p.R221R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.506A>G; p.Y169C; |
stomach | carcinoma; intestinal_adenocarcinoma |
c.1141G>A; p.E381K; |
skin | malignant_melanoma |
c.677C>T; p.P226L; |
skin | malignant_melanoma |
c.143C>A; p.T48K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |