Varaico: Literature-Extracted Genetic Variants

Gene:IBA57
Variant:p.I261T

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
6 papers
NM_001010867.4
p.I261T
c.782T>C
Surrounding Variants
1 paper
NM_001010867.4
p.G262D
c.785G>A
1 paper
NM_001010867.4
p.E264*
c.790G>T
1 paper
NM_001010867.4
p.E264G
c.791A>G
1 paper
NM_001010867.4
p.G258D
c.773G>A
1 paper
NM_001010867.4
p.A267A
c.801C>T
9 papers
NM_001010867.4
p.R268C
c.802C>T
1 paper
NM_001010867.4
p.V253A
c.758T>C
1 paper
NM_001010867.4
p.V253G
c.758T>G
7 papers
NM_001010867.4
p.V253L
c.757G>C
7 papers
NM_001010867.4
p.V253L
c.757G>T
7 papers
NM_001010867.4
p.G252C
c.754G>T
1 paper
NM_001010867.4
p.N251N
c.753C>T
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