Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.P273_E276delFs

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.P273_E276delFs
c.819_828del10
Surrounding Variants
8 papers
NM_000410.4
p.V272L
c.814G>C
9 papers
NM_000410.4
p.V272L
c.814G>T
1 paper
NM_000410.4
p.G275R
c.823G>A
2 papers
NM_000410.4
p.A271S
c.811G>T
1 paper
NM_000410.4
p.A271delFs
c.812delC
1 paper
NM_000410.4
p.A271fs
c.811_812fs
1 paper
NM_000410.4
p.E276K
c.826G>A
1 paper
NM_000410.4
p.L270*
c.809T>A
1 paper
NM_000410.4
p.L270fs
c.808_809fs
22 papers
NM_000410.4
p.E277K
c.829G>A
1 paper
NM_000410.4
p.R279_C282delFs
c.835_844del10
1 paper
NM_000410.4
p.W267*
c.801G>A
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