Varaico: Literature-Extracted Genetic Variants

Gene:FDX1
Variant:p.E133D

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.E133D
c.399G>T
Surrounding Variants
1 paper
NM_004109.5
p.E133D
c.399G>C
1 paper
NM_004109.5
p.E133G
c.398A>G
1 paper
NM_004109.5
p.E134G
c.401A>G
1 paper
NM_004109.5
p.E134D
c.402G>C
1 paper
NM_004109.5
p.E134D
c.402G>T
2 papers
NM_004109.5
p.D132E
c.396T>A
2 papers
NM_004109.5
p.D132E
c.396T>G
1 paper
NM_004109.5
p.D132G
c.395A>G
1 paper
NM_004109.5
p.N135D
c.403A>G
1 paper
NM_004109.5
p.D136A
c.407A>C
1 paper
NM_004109.5
p.D136G
c.407A>G
1 paper
NM_004109.5
p.D136E
c.408C>A
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