Varaico: Literature-Extracted Genetic Variants

Gene:IBA57
Variant:p.S174_L175delFs

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.S174_L175delFs
c.522_523delGC
Surrounding Variants
1 paper
NM_001010867.4
p.L175fs
c.523_524fs
1 paper
NM_001010867.4
p.A183P
c.547G>C
1 paper
NM_001010867.4
p.I186insFs
c.558dupC
1 paper
NM_001010867.4
p.A161V
c.482C>T
2 papers
NM_001010867.4
p.R190_R193delFs
c.569_579del11
2 papers
NM_001010867.4
p.R158P
c.473G>C
3 papers
NM_001010867.4
p.R190fs
c.568_569fs
1 paper
NM_001010867.4
p.P155Q
c.464C>A
1 paper
NM_001010867.4
p.H154R
c.461A>G
5 papers
NM_001010867.4
p.M194V
c.580A>G
1 paper
NM_001010867.4
p.G195W
c.583G>T
10 papers
NM_001010867.4
p.W196G
c.586T>G
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