Varaico: Literature-Extracted Genetic Variants

Gene:IBA57
Variant:p.W196insFs

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
6 papers
NM_001010867.4
p.W196insFs
c.588dupG
Surrounding Variants
10 papers
NM_001010867.4
p.W196G
c.586T>G
1 paper
NM_001010867.4
p.R197delFs
c.589_590delCG
1 paper
NM_001010867.4
p.R197W
c.589C>T
6 papers
NM_001010867.4
p.R197fs
c.589_590fs
1 paper
NM_001010867.4
p.G195W
c.583G>T
5 papers
NM_001010867.4
p.M194V
c.580A>G
1 paper
NM_001010867.4
p.L198R
c.593T>G
1 paper
NM_001010867.4
p.T200I
c.599C>T
3 papers
NM_001010867.4
p.R190fs
c.568_569fs
2 papers
NM_001010867.4
p.R190_R193delFs
c.569_579del11
1 paper
NM_001010867.4
p.I186insFs
c.558dupC
1 paper
NM_001010867.4
p.A183P
c.547G>C
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