Varaico: Literature-Extracted Genetic Variants

Gene:FDX1
Variant:p.E169D

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.E169D
c.507A>T
Surrounding Variants
1 paper
NM_004109.5
p.E169D
c.507A>C
2 papers
NM_004109.5
p.E169G
c.506A>G
1 paper
NM_004109.5
p.E169K
c.505G>A
1 paper
NM_004109.5
p.V171E
c.512T>A
1 paper
NM_004109.5
p.V171G
c.512T>G
1 paper
NM_004109.5
p.A172T
c.514G>A
1 paper
NM_004109.5
p.V167E
c.500T>A
1 paper
NM_004109.5
p.V167G
c.500T>G
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.D173G
c.518A>G
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