Varaico: Literature-Extracted Genetic Variants

Gene:IBA57
Variant:p.C36S

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
4 papers
NM_001010867.4
p.C36S
c.106T>A
Surrounding Variants
1 paper
NM_001010867.4
p.L31L
c.91C>T
8 papers
NM_001010867.4
p.R30fs
c.88_89fs
1 paper
NM_001010867.4
p.C29_R30insFs
c.87_88ins11
3 papers
NM_001010867.4
p.G45A
c.134G>C
2 papers
NM_001010867.4
p.C29_R30insFs
c.87_88ins11
1 paper
NM_001010867.4
p.A47T
c.139G>A
3 papers
NM_001010867.4
p.L23fs
c.67_68fs
1 paper
NM_001010867.4
p.L23fs
c.67_68fs
7 papers
NM_001010867.4
p.C50*
c.150C>A
1 paper
NM_001010867.4
p.V18I
c.52G>A
1 paper
NM_001010867.4
p.R56H
c.167G>A
8 papers
NM_001010867.4
p.P17_L23insFs
c.49_67dup19
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