| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 4524 |
Name | MTHFR |
Synonymous | -;methylenetetrahydrofolate reductase (NAD(P)H);MTHFR;methylenetetrahydrofolate reductase (NAD(P)H) |
Definition | 5,10-methylenetetrahydrofolate reductase (NADPH)|methylenetetrahydrofolate reductase |
Position | 1p36.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for MTHFR | ||
PCGP somatic mutation [Top] | ||
There is no record for MTHFR | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.676A>T; p.I226F; |
lung | carcinoma; small_cell_carcinoma |
c.686T>C; p.L229P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.152G>A; p.R51Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.60C>T; p.S20S; |
pancreas | carcinoma |
c.1565C>T; p.A522V; |
large_intestine | carcinoma; adenocarcinoma |
c.1317C>T; p.L439L; |
oesophagus | carcinoma; adenocarcinoma |
c.220G>C; p.V74L; |
stomach | carcinoma; adenocarcinoma |
c.665C>T; p.A222V; |
stomach | carcinoma; adenocarcinoma |
c.426G>T; p.L142L; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.60C>T; p.S20S; |
pancreas | carcinoma; ductal_carcinoma |
c.1694C>T; p.P565L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1186G>C; p.A396P; |
lung | carcinoma; adenocarcinoma |
c.1378C>G; p.L460V; |
lung | carcinoma; adenocarcinoma |
c.1378C>T; p.L460L; |
lung | carcinoma; adenocarcinoma |
c.616A>G; p.S206G; |
lung | carcinoma; adenocarcinoma |
c.1567G>T; p.E523*; |
lung | carcinoma; adenocarcinoma |
c.1053C>G; p.L351L; |
lung | carcinoma; adenocarcinoma |
c.628G>T; p.D210Y; |
lung | carcinoma; adenocarcinoma |
c.1081G>C; p.D361H; |
breast | carcinoma |
c.333G>A; p.M111I; |
NS | NS |
c.215G>A; p.G72E; |
NS | NS |
c.316G>T; p.E106*; |
NS | NS |
c.1470G>A; p.G490G; |
NS | NS |
c.1088G>A; p.R363H; |
prostate | carcinoma |
c.1739delT; p.F580fs*>77; |
prostate | adenoma |
c.847G>A; p.V283M; |
lung | carcinoma; adenocarcinoma |
c.1581A>G; p.Q527Q; |
lung | carcinoma; adenocarcinoma |
c.1088G>A; p.R363H; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.400C>T; p.R134C; |
lung | carcinoma; squamous_cell_carcinoma |
c.129G>C; p.E43D; |
lung | carcinoma; squamous_cell_carcinoma |
c.1098C>G; p.F366L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.527T>C; p.V176A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.443T>G; p.L148R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1102G>T; p.A368S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.789C>A; p.H263Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1468G>A; p.G490R; |
large_intestine; colon | NS |
c.893G>A; p.G298D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1417C>A; p.R473R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1070G>A; p.R357H; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.465G>A; p.A155A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1668G>A; p.P556P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1949C>T; p.A650V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.9C>A; p.N3K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.245G>A; p.R82Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.154C>T; p.R52*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.155G>A; p.R52Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1494G>C; p.V498V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.395G>A; p.R132H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.310G>T; p.D104Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.884G>T; p.R295L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.472G>T; p.G158*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.548G>T; p.R183L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1234T>C; p.S412P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.548G>A; p.R183Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1160G>A; p.G387D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.406G>A; p.E136K; |
urinary_tract; bladder | carcinoma |
c.1224G>C; p.L408L; |
urinary_tract; bladder | carcinoma |
c.1202A>G; p.K401R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.978G>A; p.E326E; |
cervix | carcinoma; squamous_cell_carcinoma |
c.805G>A; p.V269M; |
prostate | carcinoma; adenocarcinoma |
c.1443C>T; p.T481T; |
urinary_tract; bladder | carcinoma |
c.548G>A; p.R183Q; |
prostate | carcinoma; adenocarcinoma |
c.1037C>A; p.P346H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1003C>T; p.R335C; |
stomach | adenocarcinoma |