Varaico: Literature-Extracted Genetic Variants

Gene:ATP5MC2
Variant:p.L112P

ATP5MC2

19 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 75–137UCSCATP synthase subunit C

Gene Aliases

HGNC Name

ATP synthase membrane subunit c locus 2

HGNC Previous Symbol

ATP5G2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005176.7
p.L112P
c.335T>C
Surrounding Variants
1 paper
NM_005176.7
p.L118_G119insGT
c.352_356ins6
1 paper
NM_005176.7
p.F135L
c.403T>C
1 paper
NM_005176.7
p.F135L
c.405T>G
1 paper
NM_005176.7
p.F135L
c.405T>A
1 paper
NM_005176.7
p.A79T
c.235G>A
1 paper
NM_005176.7
p.S40insFs
c.118_119insGT
1 paper
NM_005176.7
p.E39_S40Splc
c.118-1G>A
1 paper
NM_005176.7
p.E34G
c.101A>G
1 paper
NM_005176.7
p.L20Q
c.59T>A
1 paper
NM_005176.7
p.A3S
c.7G>T
1 paper
NM_005176.7
p.M1T
c.2T>C
1 paper
NM_005176.7
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."