Varaico: Literature-Extracted Genetic Variants

Gene:ATPAF1
Variant:p.P92L

ATPAF1

32 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 beta subunit and is thought to prevent this subunit from formin...

Pfam Domains

ATP11aa 88–222UCSCATP11 protein

Gene Aliases

HGNC Name

ATP synthase mitochondrial F1 complex assembly factor 1

HGNC Alias Symbols

FLJ22351; Atp11p; ATP11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001394565.1
p.P92L
c.275C>T
Surrounding Variants
1 paper
NM_001394565.1
p.H112Q
c.336T>A
1 paper
NM_001394565.1
p.D117N
c.349G>A
2 papers
NM_001394565.1
p.F118_I119insGT
c.352_356ins6
2 papers
NM_001394565.1
p.R81C
c.241C>T
1 paper
NM_001394565.1
p.R79L
c.236G>T
1 paper
NM_001394565.1
p.S62G
c.184A>G
1 paper
NM_001394565.1
p.A60V
c.179C>T
1 paper
NM_001394565.1
p.R55R
c.165G>A
1 paper
NM_001394565.1
p.R55Q
c.164G>A
2 papers
NM_001394565.1
p.S40insFs
c.118_119insGT
1 paper
NM_001394565.1
p.Y23F
c.68A>T
1 paper
NM_001394565.1
p.M1I
c.3G>T
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