Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.E168Q

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
45 papers
NM_000410.4
p.E168Q
c.502G>C
Surrounding Variants
1 paper
NM_000410.4
p.E168K
c.502G>A
51 papers
NM_000410.4
p.E168*
c.502G>T
1 paper
NM_000410.4
p.E168delFs
c.503_504delAG
1 paper
NM_000410.4
p.E168del1
c.502_503delGAG
41 papers
NM_000410.4
p.W169*
c.506G>A
2 papers
NM_000410.4
p.K166N
c.498G>C
2 papers
NM_000410.4
p.K166N
c.498G>T
1 paper
NM_000410.4
p.L167del1
c.499_500delCTG
41 papers
NM_000410.4
p.W169*
c.507G>A
1 paper
NM_000410.4
p.T165T
c.495C>G
2 papers
NM_000410.4
p.T165A
c.493A>G
1 paper
NM_000410.4
p.W163*
c.489G>A
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