Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.H215_V216delFs

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.H215_V216delFs
c.645_646delTG
Surrounding Variants
1 paper
NM_000410.4
p.T217I
c.650C>T
3 papers
NM_000410.4
p.V212V
c.636G>C
1 paper
NM_000410.4
p.S219delins
c.655_656delinsAA
4 papers
NM_000410.4
p.S219L
c.656C>T
1 paper
NM_000410.4
p.T221T
c.663C>T
1 paper
NM_000410.4
p.L223delFs
c.667_668delCT
1 paper
NM_000410.4
p.L223L
c.667C>T
1 paper
NM_000410.4
p.L223fs
c.667_668fs
1 paper
NM_000410.4
p.P207_P208delFs
c.621_624del4
6 papers
NM_000410.4
p.R224G
c.670C>G
5 papers
NM_000410.4
p.R224W
c.670C>T
6 papers
NM_000410.4
p.R224Q
c.671G>A
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