Varaico: Literature-Extracted Genetic Variants

Gene:IBA57
Variant:p.C29_R30insFs

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
2 papers
NM_001010867.4
p.C29_R30insFs
c.87_88ins11
Surrounding Variants
3 papers
NM_001010867.4
p.L23fs
c.67_68fs
1 paper
NM_001010867.4
p.C29_R30insFs
c.87_88ins11
1 paper
NM_001010867.4
p.L23fs
c.67_68fs
8 papers
NM_001010867.4
p.R30fs
c.88_89fs
1 paper
NM_001010867.4
p.L31L
c.91C>T
1 paper
NM_001010867.4
p.V18I
c.52G>A
4 papers
NM_001010867.4
p.C36S
c.106T>A
8 papers
NM_001010867.4
p.P17_L23insFs
c.49_67dup19
1 paper
NM_001010867.4
p.G9fs
c.25_26fs
1 paper
NM_001010867.4
p.R8delFs
c.24delA
6 papers
NM_001010867.4
p.R8*
c.22C>T
3 papers
NM_001010867.4
p.G45A
c.134G>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."