Varaico: Literature-Extracted Genetic Variants

Gene:FDX1
Variant:p.C115F

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.C115F
c.344G>T
Surrounding Variants
1 paper
NM_004109.5
p.C115G
c.343T>G
1 paper
NM_004109.5
p.H116D
c.346C>G
1 paper
NM_004109.5
p.H116L
c.347A>T
1 paper
NM_004109.5
p.L117F
c.349C>T
1 paper
NM_004109.5
p.I118F
c.352A>T
1 paper
NM_004109.5
p.C112F
c.335G>T
1 paper
NM_004109.5
p.C112G
c.334T>G
1 paper
NM_004109.5
p.A111D
c.332C>A
1 paper
NM_004109.5
p.C112ins0
c.334_336dupTGT
1 paper
NM_004109.5
p.A111G
c.332C>G
1 paper
NM_004109.5
p.F119C
c.356T>G
1 paper
NM_004109.5
p.A111T
c.331G>A
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