Varaico: Literature-Extracted Genetic Variants

Gene:FDX1
Variant:p.L79L

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.L79L
c.237A>G
Surrounding Variants
1 paper
NM_004109.5
p.L79F
c.237A>C
1 paper
NM_004109.5
p.L79F
c.237A>T
1 paper
NM_004109.5
p.E77D
c.231A>C
1 paper
NM_004109.5
p.E77D
c.231A>T
1 paper
NM_004109.5
p.E77G
c.230A>G
1 paper
NM_004109.5
p.K82_G83insFs
c.246_247insG
1 paper
NM_004109.5
p.G76D
c.227G>A
1 paper
NM_004109.5
p.G83E
c.248G>A
1 paper
NM_004109.5
p.G76C
c.226G>T
1 paper
NM_004109.5
p.D75E
c.225T>A
1 paper
NM_004109.5
p.D75E
c.225T>G
1 paper
NM_004109.5
p.D75G
c.224A>G
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