Varaico: Literature-Extracted Genetic Variants

Gene:FDX1
Variant:p.N40H

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.N40H
c.118A>C
Surrounding Variants
1 paper
NM_004109.5
p.N40D
c.118A>G
1 paper
NM_004109.5
p.R39G
c.115A>G
1 paper
NM_004109.5
p.R41G
c.121C>G
1 paper
NM_004109.5
p.R41P
c.122G>C
1 paper
NM_004109.5
p.L38V
c.112C>G
1 paper
NM_004109.5
p.G42E
c.125G>A
1 paper
NM_004109.5
p.G36D
c.107G>A
1 paper
NM_004109.5
p.G36C
c.106G>T
1 paper
NM_004109.5
p.G44C
c.130G>T
1 paper
NM_004109.5
p.G44D
c.131G>A
1 paper
NM_004109.5
p.S35T
c.104G>C
1 paper
NM_004109.5
p.S35G
c.103A>G
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