Varaico: Literature-Extracted Genetic Variants

Gene:FDX1
Variant:p.Y142F

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.Y142F
c.425A>T
Surrounding Variants
1 paper
NM_004109.5
p.Y142C
c.425A>G
1 paper
NM_004109.5
p.Y142D
c.424T>G
1 paper
NM_004109.5
p.A141E
c.422C>A
1 paper
NM_004109.5
p.A141G
c.422C>G
1 paper
NM_004109.5
p.G143E
c.428G>A
1 paper
NM_004109.5
p.D139E
c.417T>A
1 paper
NM_004109.5
p.D139E
c.417T>G
1 paper
NM_004109.5
p.D139A
c.416A>C
1 paper
NM_004109.5
p.D139G
c.416A>G
1 paper
NM_004109.5
p.D146G
c.437A>G
1 paper
NM_004109.5
p.D146E
c.438C>A
1 paper
NM_004109.5
p.D146E
c.438C>G
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