Varaico: Literature-Extracted Genetic Variants

Gene:ATP5PO
Variant:p.K70R

ATP5PO

60 papers

RefSeq Summary

The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded prote...

Pfam Domains

OSCPaa 37–209UCSCATP synthase delta (OSCP) subunit

Gene Aliases

HGNC Name

ATP synthase peripheral stalk subunit OSCP

HGNC Previous Symbol

ATP5O

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001697.3
p.K70R
c.209A>G
Surrounding Variants
1 paper
NM_001697.3
p.K70Q
c.208A>C
2 papers
NM_001697.3
p.K73R
c.218A>G
1 paper
NM_001697.3
p.A75delFs
c.224delG
1 paper
NM_001697.3
p.N80K
c.240T>A
1 paper
NM_001697.3
p.P81L
c.242C>T
1 paper
NM_001697.3
p.N80_Y82ins1
c.239_244dup6
1 paper
NM_001697.3
p.V83M
c.247G>A
1 paper
NM_001697.3
p.R85C
c.253C>T
1 paper
NM_001697.3
p.R85H
c.254G>A
1 paper
NM_001697.3
p.I87T
c.260T>C
1 paper
NM_001697.3
p.K88T
c.263A>C
1 paper
NM_001697.3
p.K88N
c.264A>C
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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."