Varaico: Literature-Extracted Genetic Variants

Gene:ATP5F1C

ATP5F1C

40 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-syntaa 27–297UCSCATP synthase

Gene Aliases

HGNC Name

ATP synthase F1 subunit gamma

HGNC Previous Symbols

ATP5CL1; ATP5C; ATP5C1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 41 variants
2 papers
NM_001001973.3
p.R277C
c.829C>T
1 paper
NM_001001973.3
p.M1V
c.1A>G
1 paper
NM_001001973.3
p.M1T
c.2T>C
1 paper
NM_001001973.3
p.S11L
c.32C>T
1 paper
NM_001001973.3
p.Q18L
c.53A>T
1 paper
NM_001001973.3
p.I20N
c.59T>A
1 paper
NM_001001973.3
p.M25K
c.74T>A
1 paper
NM_001001973.3
p.M25T
c.74T>C
1 paper
NM_001001973.3
p.N40insFs
c.118_119insGT
1 paper
NM_001001973.3
p.K49E
c.145A>G
1 paper
NM_001001973.3
p.A53T
c.157G>A
1 paper
NM_001001973.3
p.A57A
c.171C>T
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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."