Varaico: Literature-Extracted Genetic Variants

Gene:FDX1
Variant:p.R175G

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.R175G
c.523A>G
Surrounding Variants
2 papers
NM_004109.5
p.A174D
c.521C>A
1 paper
NM_004109.5
p.A174G
c.521C>G
1 paper
NM_004109.5
p.Q176E
c.526C>G
1 paper
NM_004109.5
p.D173E
c.519T>A
1 paper
NM_004109.5
p.D173E
c.519T>G
1 paper
NM_004109.5
p.D173G
c.518A>G
1 paper
NM_004109.5
p.S177C
c.530C>G
1 paper
NM_004109.5
p.S177F
c.530C>T
1 paper
NM_004109.5
p.A172D
c.515C>A
1 paper
NM_004109.5
p.A172G
c.515C>G
1 paper
NM_004109.5
p.A172V
c.515C>T
1 paper
NM_004109.5
p.I178F
c.532A>T
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