Varaico: Literature-Extracted Genetic Variants

Gene:ATP5PB
Variant:p.K53K

ATP5PB

55 papers

RefSeq Summary

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidati...

Pfam Domains

Mt_ATP-synt_Baa 83–244UCSCMitochondrial ATP synthase B chain precursor (ATP-synt_B)

Gene Aliases

HGNC Name

ATP synthase peripheral stalk-membrane subunit b

HGNC Previous Symbol

ATP5F1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001688.5
p.K53K
c.159A>G
Surrounding Variants
1 paper
NM_001688.5
p.R55C
c.163C>T
1 paper
NM_001688.5
p.G52V
c.155G>T
1 paper
NM_001688.5
p.L58M
c.172C>A
1 paper
NM_001688.5
p.E61*
c.181G>T
1 paper
NM_001688.5
p.H40insFs
c.118_119insGT
1 paper
NM_001688.5
p.P39L
c.116C>T
1 paper
NM_001688.5
p.Y77*
c.231T>A
1 paper
NM_001688.5
p.V78I
c.232G>A
1 paper
NM_001688.5
p.L79L
c.237C>T
1 paper
NM_001688.5
p.G82A
c.245G>C
3 papers
NM_001688.5
p.I84V
c.250A>G
1 paper
NM_001688.5
p.P118_F119insGT
c.352_356ins6
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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."