Varaico: Literature-Extracted Genetic Variants

Gene:IBA57
Variant:p.M1V

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
1 paper
NM_001010867.4
p.M1V
c.1A>G
Surrounding Variants
1 paper
NM_001010867.4
p.A4V
c.11C>T
1 paper
NM_001010867.4
p.A5T
c.13G>A
1 paper
NM_001010867.4
p.A5V
c.14C>T
6 papers
NM_001010867.4
p.R8*
c.22C>T
1 paper
NM_001010867.4
p.R8delFs
c.24delA
1 paper
NM_001010867.4
p.G9fs
c.25_26fs
8 papers
NM_001010867.4
p.P17_L23insFs
c.49_67dup19
1 paper
NM_001010867.4
p.V18I
c.52G>A
3 papers
NM_001010867.4
p.L23fs
c.67_68fs
1 paper
NM_001010867.4
p.L23fs
c.67_68fs
2 papers
NM_001010867.4
p.C29_R30insFs
c.87_88ins11
1 paper
NM_001010867.4
p.C29_R30insFs
c.87_88ins11
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