Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.L153P

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.L153P
c.458T>C
Surrounding Variants
1 paper
NM_000410.4
p.L153R
c.458T>G
1 paper
NM_000410.4
p.D154N
c.460G>A
1 paper
NM_000410.4
p.D151D
c.453C>T
1 paper
NM_000410.4
p.D151delFs
c.453delC
1 paper
NM_000410.4
p.W155*
c.464G>A
1 paper
NM_000410.4
p.W155*
c.465G>A
2 papers
NM_000410.4
p.R156T
c.467G>C
1 paper
NM_000410.4
p.A157P
c.469G>C
3 papers
NM_000410.4
p.A157delFs
c.471delA
2 papers
NM_000410.4
p.A158fs
c.472_473fs
5 papers
NM_000410.4
p.P160delFs
c.478delC
3 papers
NM_000410.4
p.P160del1
c.478_479delCCC
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."