Varaico: Literature-Extracted Genetic Variants

Gene:ATP5F1E
Variant:p.I45V

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
1 paper
NM_006886.4
p.I45V
c.133A>G
Surrounding Variants
1 paper
NM_006886.4
p.K49E
c.145A>G
2 papers
NM_006886.4
p.G40insFs
c.118_119insGT
1 paper
NM_006886.4
p.E51*
c.151G>T
1 paper
NM_006886.4
p.A35insFs
c.105dupT
1 paper
NM_006886.4
p.I13T
c.38T>C
1 paper
NM_006886.4
p.Y12F
c.35A>T
14 papers
NM_006886.4
p.Y12C
c.35A>G
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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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."