Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.K113M

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.K113M
c.338A>T
Surrounding Variants
2 papers
NM_000410.4
p.E114K
c.340G>A
3 papers
NM_000410.4
p.E114Splc
c.340+1G>A
20 papers
NM_000410.4
p.E114Splc
c.340+4T>C
2 papers
NM_000410.4
p.E114Splc
c.340+7G>A
1 paper
NM_000410.4
p.H109_N110Fs
c.327_328delinsCFs
1 paper
NM_000410.4
p.H109Y
c.325C>T
1 paper
NM_000410.4
p.E107K
c.319G>A
1 paper
NM_000410.4
p.E114Splc
c.340+20C>T
43 papers
NM_000410.4
p.I105T
c.314T>C
2 papers
NM_000410.4
p.I105V
c.313A>G
2 papers
NM_000410.4
p.T104A
c.310A>G
3 papers
NM_000410.4
p.W103*
c.308G>A
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