Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.W84*

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
Selected Variant
1 paper
NM_000410.4
p.W84*
c.252G>A
Surrounding Variants
1 paper
NM_000410.4
p.L85L
c.255G>A
1 paper
NM_000410.4
p.Q82*
c.244C>T
1 paper
NM_000410.4
p.L87delFs
c.261delG
1 paper
NM_000410.4
p.S88G
c.262A>G
1 paper
NM_000410.4
p.S88C
c.262A>T
4 papers
NM_000410.4
p.S88T
c.263G>C
1 paper
NM_000410.4
p.S80*
c.239C>G
1 paper
NM_000410.4
p.R78K
c.233G>A
3 papers
NM_000410.4
p.K92N
c.276A>C
3 papers
NM_000410.4
p.K92N
c.276A>T
4 papers
NM_000410.4
p.G93delFs
c.277delG
53 papers
NM_000410.4
p.G93R
c.277G>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."