Varaico: Literature-Extracted Genetic Variants

Gene:IBA57
Variant:p.D234G

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
Selected Variant
7 papers
NM_001010867.4
p.D234G
c.701A>G
Surrounding Variants
5 papers
NM_001010867.4
p.R233*
c.697C>T
9 papers
NM_001010867.4
p.P236S
c.706C>T
10 papers
NM_001010867.4
p.P229L
c.686C>T
1 paper
NM_001010867.4
p.V228fs
c.682_683fs
6 papers
NM_001010867.4
p.E244A
c.731A>C
9 papers
NM_001010867.4
p.N246K
c.738C>A
9 papers
NM_001010867.4
p.N246K
c.738C>G
1 paper
NM_001010867.4
p.N251N
c.753C>T
7 papers
NM_001010867.4
p.G252C
c.754G>T
7 papers
NM_001010867.4
p.V253L
c.757G>C
7 papers
NM_001010867.4
p.V253L
c.757G>T
1 paper
NM_001010867.4
p.V253A
c.758T>C
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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."