| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 3077 |
Name | HFE |
Synonymous | HFE1|HH|HLA-H|MVCD7|TFQTL2;hemochromatosis;HFE;hemochromatosis |
Definition | MHC class I-like protein HFE|hereditary hemochromatosis protein|hereditary hemochromatosis protein HLA-H|high Fe |
Position | 6p21.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for HFE | ||
PCGP somatic mutation [Top] | ||
There is no record for HFE | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.922G>T; p.G308*; |
lung | carcinoma; small_cell_carcinoma |
c.923G>T; p.G308V; |
lung | carcinoma; small_cell_carcinoma |
c.1027G>A; p.V343I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.541G>T; p.A181S; |
liver | carcinoma; hepatocellular_carcinoma |
c.541G>T; p.A181S; |
liver | carcinoma; hepatocellular_carcinoma |
c.340+4T>C; p.?; |
stomach | carcinoma; adenocarcinoma |
c.1015A>G; p.M339V; |
liver | carcinoma; hepatocellular_carcinoma |
c.665C>T; p.T222I; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1015A>G; p.M339V; |
liver | carcinoma |
c.95A>C; p.Y32S; |
lung | carcinoma; adenocarcinoma |
c.1012G>T; p.A338S; |
autonomic_ganglia | neuroblastoma |
c.874C>G; p.P292A; |
bone | osteosarcoma |
c.493A>G; p.T165A; |
lung | carcinoma; small_cell_carcinoma |
c.535A>T; p.N179Y; |
endometrium | carcinoma; serous_carcinoma |
c.384A>C; p.E128D; |
lung | carcinoma; adenocarcinoma |
c.405C>A; p.Y135*; |
ovary | carcinoma; serous_carcinoma |
c.724G>T; p.D242Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.114A>G; p.S38S; |
lung | carcinoma; squamous_cell_carcinoma |
c.157G>A; p.V53M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.317T>G; p.M106R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.67C>T; p.R23C; |
large_intestine; colon | NS |
c.212G>A; p.R71Q; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.91C>G; p.H31D; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.640C>T; p.H214Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.818C>T; p.P273L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.699G>T; p.Q233H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.306C>T; p.F102F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.335G>T; p.S112I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.620C>T; p.P207L; |
breast | carcinoma |
c.643C>T; p.H215Y; |
urinary_tract; bladder | carcinoma |
c.743C>G; p.A248G; |
breast | carcinoma |
c.684G>T; p.L228F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.717G>A; p.W239*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.212G>A; p.R71Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.779G>T; p.G260V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1012G>A; p.A338T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.865C>A; p.L289M; |
stomach | adenocarcinoma |