Varaico: Literature-Extracted Genetic Variants

Gene:FDX1
Variant:p.D121E

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.D121E
c.363T>G
Surrounding Variants
1 paper
NM_004109.5
p.D121E
c.363T>A
1 paper
NM_004109.5
p.D121G
c.362A>G
1 paper
NM_004109.5
p.H122D
c.364C>G
1 paper
NM_004109.5
p.E120D
c.360A>C
1 paper
NM_004109.5
p.E120D
c.360A>T
1 paper
NM_004109.5
p.E120G
c.359A>G
1 paper
NM_004109.5
p.Y124H
c.370T>C
1 paper
NM_004109.5
p.F119C
c.356T>G
1 paper
NM_004109.5
p.Y124D
c.370T>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.Y124*
c.372T>A
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