Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.Y280S

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.Y280S
c.839A>C
Surrounding Variants
1 paper
NM_000410.4
p.Y280C
c.839A>G
1 paper
NM_000410.4
p.Y280_T281insFs
c.840_841insA
1 paper
NM_000410.4
p.T281A
c.841A>G
5 papers
NM_000410.4
p.T281K
c.842C>A
1 paper
NM_000410.4
p.T281M
c.842C>T
1 paper
NM_000410.4
p.R279K
c.836G>A
3 papers
NM_000410.4
p.T281T
c.843G>A
1 paper
NM_000410.4
p.R279_C282delFs
c.835_844del10
10 papers
NM_000410.4
p.C282S
c.844T>A
2168 papers
NM_000410.4
p.C282Y
c.845G>A
10 papers
NM_000410.4
p.C282S
c.845G>C
2 papers
NM_000410.4
p.Q283*
c.847C>T
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