Varaico: Literature-Extracted Genetic Variants

Gene:FDX1
Variant:p.R74C

FDX1

67 papers

RefSeq Summary

This gene encodes a small iron-sulfur protein that transfers electrons from NADPH through ferredoxin reductase to mitochondrial cytochrome P450, involved in steroid, vitamin D, and bile acid metabolis...

Pfam Domains

Fer2aa 72–157UCSC2Fe-2S iron-sulfur cluster binding domain

Gene Aliases

HGNC Name

ferredoxin 1

HGNC Alias Symbol

ADX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004109.5
p.R74C
c.220C>T
Surrounding Variants
1 paper
NM_004109.5
p.R74G
c.220C>G
1 paper
NM_004109.5
p.R74H
c.221G>A
1 paper
NM_004109.5
p.N73H
c.217A>C
1 paper
NM_004109.5
p.N73D
c.217A>G
1 paper
NM_004109.5
p.D75H
c.223G>C
1 paper
NM_004109.5
p.D75G
c.224A>G
1 paper
NM_004109.5
p.D75E
c.225T>A
1 paper
NM_004109.5
p.D75E
c.225T>G
1 paper
NM_004109.5
p.G76C
c.226G>T
1 paper
NM_004109.5
p.G76D
c.227G>A
1 paper
NM_004109.5
p.F71C
c.212T>G
1 paper
NM_004109.5
p.E77G
c.230A>G
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