Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.Q56H

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.Q56H
c.168G>C
Surrounding Variants
3 papers
NM_000410.4
p.Q56H
c.168G>T
1 paper
NM_000410.4
p.L57del1
c.169_170delCTG
2 papers
NM_000410.4
p.Q56*
c.166C>T
1 paper
NM_000410.4
p.L57L
c.171G>C
1 paper
NM_000410.4
p.D55N
c.163G>A
1 paper
NM_000410.4
p.F58L
c.174C>A
1 paper
NM_000410.4
p.F58L
c.174C>G
44 papers
NM_000410.4
p.V59M
c.175G>A
1 paper
NM_000410.4
p.D54Y
c.160G>T
1 paper
NM_000410.4
p.V53V
c.159G>C
46 papers
NM_000410.4
p.V53M
c.157G>A
3 papers
NM_000410.4
p.Y52*
c.156C>A
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