Varaico: Literature-Extracted Genetic Variants

Gene:FDX1
Variant:p.D65E

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.D65E
c.195T>A
Surrounding Variants
1 paper
NM_004109.5
p.D65E
c.195T>G
1 paper
NM_004109.5
p.D65G
c.194A>G
1 paper
NM_004109.5
p.K66E
c.196A>G
1 paper
NM_004109.5
p.D65H
c.193G>C
1 paper
NM_004109.5
p.E64D
c.192A>C
1 paper
NM_004109.5
p.E64D
c.192A>T
1 paper
NM_004109.5
p.E64A
c.191A>C
1 paper
NM_004109.5
p.E64G
c.191A>G
1 paper
NM_004109.5
p.I67R
c.200T>G
1 paper
NM_004109.5
p.T68_G76delFs
c.204_228del25
1 paper
NM_004109.5
p.V69F
c.205G>T
1 paper
NM_004109.5
p.V69D
c.206T>A
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