Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.L33P

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.L33P
c.98T>C
Surrounding Variants
1 paper
NM_000410.4
p.L33R
c.98T>G
2 papers
NM_000410.4
p.Y32C
c.95A>G
1 paper
NM_000410.4
p.Y32delFs
c.96delC
2 papers
NM_000410.4
p.L30L
c.88C>T
6 papers
NM_000410.4
p.A37T
c.109G>A
1 paper
NM_000410.4
p.L30insFs
c.88_89insC
1 paper
NM_000410.4
p.A37A
c.111C>G
1 paper
NM_000410.4
p.H28H
c.84C>T
1 paper
NM_000410.4
p.H28Y
c.82C>T
1 paper
NM_000410.4
p.Q40delFs
c.118_119delCA
1 paper
NM_000410.4
p.Q40E
c.118C>G
1 paper
NM_000410.4
p.R26Splc
c.77-1G>A
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