Varaico: Literature-Extracted Genetic Variants

Gene:IBA57
Variant:p.Y96H

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
15 papers
NM_001010867.4
p.Y96H
c.286T>C
Surrounding Variants
1 paper
NM_001010867.4
p.A94fs
c.280_281fs
1 paper
NM_001010867.4
p.H98R
c.293A>G
1 paper
NM_001010867.4
p.R93S
c.277C>A
1 paper
NM_001010867.4
p.F99fs
c.295_296fs
1 paper
NM_001010867.4
p.A92delFs
c.274_275delGC
1 paper
NM_001010867.4
p.P90R
c.269C>G
8 papers
NM_001010867.4
p.Q103*
c.307C>T
3 papers
NM_001010867.4
p.A88A
c.264C>G
7 papers
NM_001010867.4
p.G104C
c.310G>T
1 paper
NM_001010867.4
p.R105G
c.313C>G
10 papers
NM_001010867.4
p.R105W
c.313C>T
1 paper
NM_001010867.4
p.G87_A88ins11
c.259_263ins33
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