Varaico: Literature-Extracted Genetic Variants

Gene:FDX1
Variant:p.V85F

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.V85F
c.253G>T
Surrounding Variants
1 paper
NM_004109.5
p.V85D
c.254T>A
1 paper
NM_004109.5
p.V85G
c.254T>G
1 paper
NM_004109.5
p.G86C
c.256G>T
1 paper
NM_004109.5
p.G86D
c.257G>A
1 paper
NM_004109.5
p.G83E
c.248G>A
1 paper
NM_004109.5
p.K82_G83insFs
c.246_247insG
1 paper
NM_004109.5
p.D87G
c.260A>G
1 paper
NM_004109.5
p.D87E
c.261T>A
1 paper
NM_004109.5
p.D87E
c.261T>G
1 paper
NM_004109.5
p.S88C
c.263C>G
1 paper
NM_004109.5
p.S88F
c.263C>T
1 paper
NM_004109.5
p.L79F
c.237A>C
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