Varaico: Literature-Extracted Genetic Variants

Gene:IBA57
Variant:p.W351*

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.W351*
c.1053G>A
Surrounding Variants
1 paper
NM_001010867.4
p.W351*
c.1052G>A
1 paper
NM_001010867.4
p.A345S
c.1033G>T
2 papers
NM_001010867.4
p.L331Q
c.992T>A
1 paper
NM_001010867.4
p.L331V
c.991C>G
3 papers
NM_001010867.4
p.N316T
c.947A>C
14 papers
NM_001010867.4
p.Q314P
c.941A>C
8 papers
NM_001010867.4
p.Q314*
c.940C>T
1 paper
NM_001010867.4
p.F310L
c.930C>A
1 paper
NM_001010867.4
p.F310L
c.930C>G
1 paper
NM_001010867.4
p.F310L
c.928T>C
1 paper
NM_001010867.4
p.G308V
c.923G>T
1 paper
NM_001010867.4
p.R283W
c.847C>T
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