Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.H63H

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
4 papers
NM_000410.4
p.H63H
c.189T>C
Surrounding Variants
1 paper
NM_000410.4
p.E64K
c.190G>A
1841 papers
NM_000410.4
p.H63D
c.187C>G
NM_139011.3
p.Q26Splc
c.77-2168C>G
1 paper
NM_000410.4
p.H63Y
c.187C>T
1 paper
NM_000410.4
p.D62insFs
c.186dupT
474 papers
NM_000410.4
p.S65C
c.193A>T
1 paper
NM_000410.4
p.D62H
c.184G>C
1 paper
NM_000410.4
p.S65S
c.195T>C
1 paper
NM_000410.4
p.Y61F
c.182A>T
2 papers
NM_000410.4
p.R66S
c.196C>A
8 papers
NM_000410.4
p.R66C
c.196C>T
1 paper
NM_000410.4
p.R66H
c.197G>A
1 paper
NM_000410.4
p.F60L
c.180C>G
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