Varaico: Literature-Extracted Genetic Variants

Gene:ATPAF2
Variant:p.H107D

ATPAF2

70 papers

RefSeq Summary

This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from formi...

Pfam Domains

ATP12aa 47–166UCSCATP12 chaperone protein

Gene Aliases

HGNC Name

ATP synthase mitochondrial F1 complex assembly factor 2

HGNC Alias Symbols

Atp12p; ATP12; LP3663; MGC29736

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_145691.4
p.H107D
c.319C>G
Surrounding Variants
1 paper
NM_145691.4
p.M106R
c.317T>G
1 paper
NM_145691.4
p.W94S
c.281G>C
11 papers
NM_145691.4
p.W94R
c.280T>C
13 papers
NM_145691.4
p.W94R
c.280T>A
2 papers
NM_145691.4
p.P82L
c.245C>T
1 paper
NM_145691.4
p.R69W
c.205A>T
1 paper
NM_145691.4
p.G60Splc
c.179-51A>G
1 paper
NM_145691.4
p.E59D
c.177A>T
1 paper
NM_145691.4
p.S54G
c.160A>G
1 paper
NM_145691.4
p.K47delFs
c.141delC
1 paper
NM_145691.4
p.E45Splc
c.134-35T>C
1 paper
NM_145691.4
p.N118K
c.354C>G
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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."