Varaico: Literature-Extracted Genetic Variants

Gene:ATP5PF
Variant:p.R54delFs

ATP5PF

54 papers

RefSeq Summary

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subu...

Pfam Domains

ATP-synt_F6aa 1–97UCSCMitochondrial ATP synthase coupling factor 6

Gene Aliases

HGNC Name

ATP synthase peripheral stalk subunit F6

HGNC Previous Symbols

ATP5A; ATP5; ATPM; ATP5J

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001003703.2
p.R54delFs
c.161delC
Surrounding Variants
2 papers
NM_001003703.2
p.Y50*
c.150C>G
1 paper
NM_001003703.2
p.Y50*
c.150C>A
1 paper
NM_001003703.2
p.R48T
c.143G>C
1 paper
NM_001003703.2
p.Q40insFs
c.118_119insGT
1 paper
NM_001003703.2
p.I39T
c.116T>C
3 papers
NM_001003703.2
p.R22W
c.64C>T
1 paper
NM_001003703.2
p.I13T
c.38T>C
1 paper
NM_001003703.2
p.M1T
c.2T>C
1 paper
NM_001003703.2
p.M1V
c.1A>G
1 paper
NM_001003703.2
p.G59G
c.177A>T
1 paper
NM_001003703.2
p.Q68_E72delFs
c.204_214del11
1 paper
NM_001003703.2
p.K79E
c.235A>G
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