Varaico: Literature-Extracted Genetic Variants

Gene:ATP5F1E
Variant:p.Y12C

ATP5F1E

25 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

ATP-synt_Epsaa 3–50UCSCMitochondrial ATP synthase epsilon chain

Gene Aliases

HGNC Name

ATP synthase F1 subunit epsilon

HGNC Previous Symbol

ATP5E

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
14 papers
NM_006886.4
p.Y12C
c.35A>G
Surrounding Variants
1 paper
NM_006886.4
p.Y12F
c.35A>T
1 paper
NM_006886.4
p.I13T
c.38T>C
1 paper
NM_006886.4
p.A35insFs
c.105dupT
2 papers
NM_006886.4
p.G40insFs
c.118_119insGT
1 paper
NM_006886.4
p.I45V
c.133A>G
1 paper
NM_006886.4
p.K49E
c.145A>G
1 paper
NM_006886.4
p.E51*
c.151G>T
1 paper
NM_006886.4
p.Q7L
c.20A>T
1 paper
NM_006886.4
p.Q7K
c.19C>A
1 paper
NM_006886.4
p.M1T
c.2T>C
1 paper
NM_006886.4
p.M1V
c.1A>G
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