Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.K137T

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.K137T
c.410A>C
Surrounding Variants
5 papers
NM_000410.4
p.Y138*
c.414C>A
5 papers
NM_000410.4
p.Y138*
c.414C>G
1 paper
NM_000410.4
p.Y135H
c.403T>C
1 paper
NM_000410.4
p.D141N
c.421G>A
3 papers
NM_000410.4
p.D141Y
c.421G>T
1 paper
NM_000410.4
p.E133_G134delins
c.399_401delinsCCA
1 paper
NM_000410.4
p.D141G
c.422A>G
4 papers
NM_000410.4
p.G142E
c.425G>A
1 paper
NM_000410.4
p.Q143del1
c.427_428delCAG
1 paper
NM_000410.4
p.S131I
c.392G>T
1 paper
NM_000410.4
p.D144N
c.430G>A
1 paper
NM_000410.4
p.N130S
c.389A>G
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