Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.C187G

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
41 papers
NM_000410.4
p.C187G
c.559T>G
Surrounding Variants
1 paper
NM_000410.4
p.A189T
c.565G>A
8 papers
NM_000410.4
p.L183P
c.548T>C
1 paper
NM_000410.4
p.L183fs
c.547_548fs
2 papers
NM_000410.4
p.L191_G198delFs
c.573_594del22
1 paper
NM_000410.4
p.Y182_L183delFs
c.546_547delCC
1 paper
NM_000410.4
p.Q192*
c.574C>T
2 papers
NM_000410.4
p.Q192R
c.575A>G
1 paper
NM_000410.4
p.Q192Q
c.576G>A
2 papers
NM_000410.4
p.R180K
c.539G>A
1 paper
NM_000410.4
p.R180M
c.539G>T
1 paper
NM_000410.4
p.L194L
c.582G>A
1 paper
NM_000410.4
p.Q178E
c.532C>G
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