Varaico: Literature-Extracted Genetic Variants

Gene:ATP5MC3
Variant:p.F130L

ATP5MC3

35 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_Caa 76–138UCSCATP synthase subunit C

Gene Aliases

HGNC Name

ATP synthase membrane subunit c locus 3

HGNC Previous Symbol

ATP5G3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001689.5
p.F130L
c.390T>A
Surrounding Variants
1 paper
NM_001689.5
p.F130L
c.390T>G
1 paper
NM_001689.5
p.F130L
c.388T>C
1 paper
NM_001689.5
p.A126T
c.376G>A
1 paper
NM_001689.5
p.I118_L119insGT
c.352_356ins6
1 paper
NM_001689.5
p.Y116F
c.347A>T
1 paper
NM_001689.5
p.P107A
c.319C>G
6 papers
NM_001689.5
p.N106K
c.318C>G
5 papers
NM_001689.5
p.N106K
c.318C>A
1 paper
NM_001689.5
p.N106S
c.317A>G
1 paper
NM_001689.5
p.N106Y
c.316A>T
3 papers
NM_001689.5
p.G79V
c.236G>T
1 paper
NM_001689.5
p.G77R
c.229G>C
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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."