Varaico: Literature-Extracted Genetic Variants

Gene:FDX1
Variant:p.R11H

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.R11H
c.32G>A
Surrounding Variants
1 paper
NM_004109.5
p.R11G
c.31C>G
1 paper
NM_004109.5
p.R11C
c.31C>T
1 paper
NM_004109.5
p.A12D
c.35C>A
1 paper
NM_004109.5
p.A12G
c.35C>G
1 paper
NM_004109.5
p.A13D
c.38C>A
2 papers
NM_004109.5
p.A13G
c.38C>G
1 paper
NM_004109.5
p.R8G
c.22C>G
1 paper
NM_004109.5
p.A7D
c.20C>A
1 paper
NM_004109.5
p.A15D
c.44C>A
1 paper
NM_004109.5
p.A7G
c.20C>G
1 paper
NM_004109.5
p.A15G
c.44C>G
1 paper
NM_004109.5
p.V16F
c.46G>T
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