Varaico: Literature-Extracted Genetic Variants

Gene:ATP5MC1
Variant:p.A84delFs

ATP5MC1

31 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 70–132UCSCATP synthase subunit C

Gene Aliases

HGNC Name

ATP synthase membrane subunit c locus 1

HGNC Previous Symbols

ATP5G; ATP5G1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_005175.3
p.A84delFs
c.251delC
Surrounding Variants
1 paper
NM_005175.3
p.G85D
c.254G>A
1 paper
NM_005175.3
p.S82L
c.245C>T
2 papers
NM_005175.3
p.G87E
c.260G>A
1 paper
NM_005175.3
p.A67G
c.200C>G
1 paper
NM_005175.3
p.R61fs
c.181_182fs
1 paper
NM_005175.3
p.R61delFs
c.182delG
1 paper
NM_005175.3
p.S60T
c.178T>A
1 paper
NM_005175.3
p.N44K
c.132C>A
1 paper
NM_005175.3
p.N44K
c.132C>G
1 paper
NM_005175.3
p.P40insFs
c.118_119insGT
1 paper
NM_005175.3
p.S102P
c.304T>C
1 paper
NM_005175.3
p.L107V
c.319C>G
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