Varaico: Literature-Extracted Genetic Variants

Gene:IBA57

IBA57

110 papers

RefSeq Summary

The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S ...

Pfam Domains

Beta-barrel_CAF17_Caa 276–353UCSCCAF17, C-terminal beta-barrel domain

Gene Aliases

HGNC Name

iron-sulfur cluster assembly factor IBA57

HGNC Previous Symbol

C1orf69

Papers
RefSeq ID
Protein change
DNA change
1–12 of 127 variants
15 papers
NM_001010867.4
p.Y96H
c.286T>C
15 papers
NM_001010867.4
p.T106A
c.316A>G
14 papers
NM_001010867.4
p.Q314P
c.941A>C
13 papers
NM_001010867.4
p.R146W
c.436C>T
10 papers
NM_001010867.4
p.R105W
c.313C>T
10 papers
NM_001010867.4
p.Y108S
c.323A>C
10 papers
NM_001010867.4
p.W196G
c.586T>G
10 papers
NM_001010867.4
p.P229L
c.686C>T
9 papers
NM_001010867.4
p.P236S
c.706C>T
9 papers
NM_001010867.4
p.N246K
c.738C>A
9 papers
NM_001010867.4
p.N246K
c.738C>G
9 papers
NM_001010867.4
p.R268C
c.802C>T
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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."