Varaico: Literature-Extracted Genetic Variants

Gene:FDX1
Variant:p.G102C

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.G102C
c.304G>T
Surrounding Variants
1 paper
NM_004109.5
p.G102D
c.305G>A
1 paper
NM_004109.5
p.D101E
c.303T>A
1 paper
NM_004109.5
p.D101E
c.303T>G
1 paper
NM_004109.5
p.D101G
c.302A>G
1 paper
NM_004109.5
p.F103C
c.308T>G
1 paper
NM_004109.5
p.G104C
c.310G>T
1 paper
NM_004109.5
p.G104D
c.311G>A
2 papers
NM_004109.5
p.D99E
c.297T>A
1 paper
NM_004109.5
p.D99E
c.297T>G
1 paper
NM_004109.5
p.D99G
c.296A>G
1 paper
NM_004109.5
p.L98_G102Fs
c.294_305delinsTTGTCFs
1 paper
NM_004109.5
p.D99_G102del0
c.295_306del12
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."