Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.I235T

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.I235T
c.704T>C
Surrounding Variants
1 paper
NM_000410.4
p.T236_K238delFs
c.706_713del8
4 papers
NM_000410.4
p.Q233*
c.697C>T
1 paper
NM_000410.4
p.K238*
c.712A>T
2 papers
NM_000410.4
p.P232P
c.696C>T
1 paper
NM_000410.4
p.Y231*
c.693C>A
1 paper
NM_000410.4
p.Y231*
c.693C>G
1 paper
NM_000410.4
p.P232_N234delFs
c.694_701del8
1 paper
NM_000410.4
p.Y231C
c.692A>G
1 paper
NM_000410.4
p.Y230C
c.689A>G
4 papers
NM_000410.4
p.Y230F
c.689A>T
6 papers
NM_000410.4
p.Y231del1
c.691_692delTAC
3 papers
NM_000410.4
p.D242N
c.724G>A
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