Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.R67P

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.R67P
c.200G>C
Surrounding Variants
1 paper
NM_000410.4
p.R67H
c.200G>A
1 paper
NM_000410.4
p.R67G
c.199C>G
4 papers
NM_000410.4
p.R67C
c.199C>T
2 papers
NM_000410.4
p.V68fs
c.202_203fs
5 papers
NM_000410.4
p.V68delFs
c.203delT
1 paper
NM_000410.4
p.V68fs
c.202_203fs
1 paper
NM_000410.4
p.R66H
c.197G>A
2 papers
NM_000410.4
p.R66S
c.196C>A
8 papers
NM_000410.4
p.R66C
c.196C>T
1 paper
NM_000410.4
p.V68_E69insFs
c.204_205insC
1 paper
NM_000410.4
p.S65S
c.195T>C
1 paper
NM_000410.4
p.E69A
c.206A>C
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