Varaico: Literature-Extracted Genetic Variants

Gene:IBA57
Variant:p.G211S

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.G211S
c.631G>A
Surrounding Variants
1 paper
NM_001010867.4
p.L216S
c.647T>C
6 papers
NM_001010867.4
p.Y219C
c.656A>G
1 paper
NM_001010867.4
p.T200I
c.599C>T
5 papers
NM_001010867.4
p.R223*
c.667C>T
1 paper
NM_001010867.4
p.R223Q
c.668G>A
1 paper
NM_001010867.4
p.L198R
c.593T>G
1 paper
NM_001010867.4
p.R197W
c.589C>T
6 papers
NM_001010867.4
p.R197fs
c.589_590fs
1 paper
NM_001010867.4
p.L225R
c.674T>G
1 paper
NM_001010867.4
p.R197delFs
c.589_590delCG
10 papers
NM_001010867.4
p.W196G
c.586T>G
6 papers
NM_001010867.4
p.W196insFs
c.588dupG
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