Varaico: Literature-Extracted Genetic Variants

Gene:FDX1
Variant:p.E125D

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
2 papers
NM_004109.5
p.E125D
c.375G>C
Surrounding Variants
1 paper
NM_004109.5
p.E125D
c.375G>T
1 paper
NM_004109.5
p.E125G
c.374A>G
1 paper
NM_004109.5
p.K126E
c.376A>G
1 paper
NM_004109.5
p.Y124*
c.372T>A
1 paper
NM_004109.5
p.Y124Y
c.372T>C
1 paper
NM_004109.5
p.Y124*
c.372T>G
1 paper
NM_004109.5
p.Y124C
c.371A>G
1 paper
NM_004109.5
p.Y124F
c.371A>T
1 paper
NM_004109.5
p.Y124H
c.370T>C
1 paper
NM_004109.5
p.Y124D
c.370T>G
1 paper
NM_004109.5
p.L127F
c.381A>C
1 paper
NM_004109.5
p.L127F
c.381A>T
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