Varaico: Literature-Extracted Genetic Variants

Gene:FDX1
Variant:p.K158E

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.K158E
c.472A>G
Surrounding Variants
1 paper
NM_004109.5
p.S159C
c.476C>G
1 paper
NM_004109.5
p.S159F
c.476C>T
1 paper
NM_004109.5
p.L156F
c.468G>C
1 paper
NM_004109.5
p.L156F
c.468G>T
1 paper
NM_004109.5
p.C155F
c.464G>T
1 paper
NM_004109.5
p.C155G
c.463T>G
1 paper
NM_004109.5
p.D161G
c.482A>G
1 paper
NM_004109.5
p.D161E
c.483C>A
1 paper
NM_004109.5
p.D161E
c.483C>G
1 paper
NM_004109.5
p.N162D
c.484A>G
2 papers
NM_004109.5
p.I154F
c.460A>T
1 paper
NM_004109.5
p.N162I
c.485A>T
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