Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.K249K

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
2 papers
NM_000410.4
p.K249K
c.747G>A
Surrounding Variants
1 paper
NM_000410.4
p.K254delFs
c.762delA
1 paper
NM_000410.4
p.P245S
c.733C>T
1 paper
NM_000410.4
p.K254K
c.762A>G
1 paper
NM_000410.4
p.Q244*
c.730C>T
4 papers
NM_000410.4
p.V256I
c.766G>A
1 paper
NM_000410.4
p.V256G
c.767T>G
3 papers
NM_000410.4
p.D242N
c.724G>A
1 paper
NM_000410.4
p.D242Y
c.724G>T
1 paper
NM_000410.4
p.P258insFs
c.772_773ins4
1 paper
NM_000410.4
p.K238*
c.712A>T
1 paper
NM_000410.4
p.G262E
c.785G>A
1 paper
NM_000410.4
p.T236_K238delFs
c.706_713del8
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