Varaico: Literature-Extracted Genetic Variants

Gene:FDX1
Variant:p.A47E

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.A47E
c.140C>A
Surrounding Variants
1 paper
NM_004109.5
p.A47G
c.140C>G
1 paper
NM_004109.5
p.A47T
c.139G>A
1 paper
NM_004109.5
p.S46G
c.136A>G
1 paper
NM_004109.5
p.S46C
c.136A>T
1 paper
NM_004109.5
p.E48D
c.144G>C
1 paper
NM_004109.5
p.A49T
c.145G>A
2 papers
NM_004109.5
p.A49E
c.146C>A
1 paper
NM_004109.5
p.A49G
c.146C>G
1 paper
NM_004109.5
p.G45E
c.134G>A
1 paper
NM_004109.5
p.S50G
c.148A>G
1 paper
NM_004109.5
p.S50C
c.148A>T
1 paper
NM_004109.5
p.G44D
c.131G>A
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