Varaico: Literature-Extracted Genetic Variants

Gene:IBA57
Variant:p.D109V

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
3 papers
NM_001010867.4
p.D109V
c.326A>T
Surrounding Variants
10 papers
NM_001010867.4
p.Y108S
c.323A>C
7 papers
NM_001010867.4
p.L112S
c.335T>C
5 papers
NM_001010867.4
p.L112W
c.335T>G
15 papers
NM_001010867.4
p.T106A
c.316A>G
1 paper
NM_001010867.4
p.Y113C
c.338A>G
1 paper
NM_001010867.4
p.R105G
c.313C>G
10 papers
NM_001010867.4
p.R105W
c.313C>T
2 papers
NM_001010867.4
p.G114A
c.341G>C
2 papers
NM_001010867.4
p.G114Splc
c.341+1G>A
7 papers
NM_001010867.4
p.G104C
c.310G>T
8 papers
NM_001010867.4
p.Q103*
c.307C>T
1 paper
NM_001010867.4
p.G114Splc
c.341+5G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."