Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.K254K

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.K254K
c.762A>G
Surrounding Variants
1 paper
NM_000410.4
p.K254delFs
c.762delA
4 papers
NM_000410.4
p.V256I
c.766G>A
1 paper
NM_000410.4
p.V256G
c.767T>G
1 paper
NM_000410.4
p.P258insFs
c.772_773ins4
2 papers
NM_000410.4
p.K249K
c.747G>A
1 paper
NM_000410.4
p.G262E
c.785G>A
1 paper
NM_000410.4
p.Q265_T269insFs
c.794_807dup14
1 paper
NM_000410.4
p.P245S
c.733C>T
1 paper
NM_000410.4
p.Y264*
c.792C>A
1 paper
NM_000410.4
p.Y264*
c.792C>G
1 paper
NM_000410.4
p.Q265insFs
c.794dupA
1 paper
NM_000410.4
p.Q265*
c.793C>T
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