Varaico: Literature-Extracted Genetic Variants

Gene:ATP5MC3
Variant:p.S53C

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.S53C
c.158C>G
Surrounding Variants
1 paper
NM_001689.5
p.Q57R
c.170A>G
1 paper
NM_001689.5
p.G47delFs
c.141delC
1 paper
NM_001689.5
p.F60I
c.178T>A
1 paper
NM_001689.5
p.N46I
c.137A>T
1 paper
NM_001689.5
p.F45S
c.134T>C
1 paper
NM_001689.5
p.A64P
c.190G>C
1 paper
NM_001689.5
p.A64V
c.191C>T
1 paper
NM_001689.5
p.I65V
c.193A>G
1 paper
NM_001689.5
p.I69F
c.205A>T
1 paper
NM_001689.5
p.A72G
c.215C>G
1 paper
NM_001689.5
p.G77R
c.229G>C
3 papers
NM_001689.5
p.G79V
c.236G>T
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