Varaico: Literature-Extracted Genetic Variants

Gene:HFE

HFE

2,509 papers

RefSeq Summary

The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regul...

Pfam Domains

MHC_Iaa 26–202UCSCClass I Histocompatibility antigen, domains alpha 1 and 2
C1-setaa 206–289UCSCImmunoglobulin C1-set domain

Gene Aliases

HGNC Name

homeostatic iron regulator

HGNC Alias Symbol

HFE1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 348 variants
2168 papers
NM_000410.4
p.C282Y
c.845G>A
1841 papers
NM_000410.4
p.H63D
c.187C>G
474 papers
NM_000410.4
p.S65C
c.193A>T
54 papers
NM_000410.4
p.G93R
c.277G>C
53 papers
NM_000410.4
p.G93R
c.277G>A
51 papers
NM_000410.4
p.E168*
c.502G>T
49 papers
NM_000410.4
p.Q127H
c.381A>C
49 papers
NM_000410.4
p.Q127H
c.381A>T
49 papers
NM_000410.4
p.Q283P
c.848A>C
46 papers
NM_000410.4
p.V53M
c.157G>A
45 papers
NM_000410.4
p.E168Q
c.502G>C
44 papers
NM_000410.4
p.V59M
c.175G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."