Varaico: Literature-Extracted Genetic Variants

Gene:ATP5F1C
Variant:p.R277C

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
Selected Variant
2 papers
NM_001001973.3
p.R277C
c.829C>T
Surrounding Variants
1 paper
NM_001001973.3
p.R277R
c.831T>A
1 paper
NM_001001973.3
p.G293R
c.877G>C
1 paper
NM_001001973.3
p.N259insFs
c.775dupA
1 paper
NM_001001973.3
p.D220N
c.658G>A
1 paper
NM_001001973.3
p.Y196C
c.587A>G
1 paper
NM_001001973.3
p.V193G
c.578T>G
1 paper
NM_001001973.3
p.T162fs
c.484_485fs
1 paper
NM_001001973.3
p.T162delFs
c.485delC
1 paper
NM_001001973.3
p.F149del1
c.445_446delTTT
1 paper
NM_001001973.3
p.D147H
c.439G>C
1 paper
NM_001001973.3
p.L141F
c.421C>T
1 paper
NM_001001973.3
p.L121I
c.361C>A
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