Varaico: Literature-Extracted Genetic Variants

Gene:ATP5F1C
Variant:p.L141F

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
1 paper
NM_001001973.3
p.L141F
c.421C>T
Surrounding Variants
1 paper
NM_001001973.3
p.L121I
c.361C>A
1 paper
NM_001001973.3
p.L121_E127del0
c.362_379del18
1 paper
NM_001001973.3
p.T120delFs
c.359delC
1 paper
NM_001001973.3
p.V118_A119insGT
c.352_356ins6
1 paper
NM_001001973.3
p.S108F
c.323C>T
1 paper
NM_001001973.3
p.H107D
c.319C>G
1 paper
NM_001001973.3
p.I106T
c.317T>C
1 paper
NM_001001973.3
p.I106S
c.317T>G
1 paper
NM_001001973.3
p.A105P
c.313G>C
1 paper
NM_001001973.3
p.P85L
c.254C>T
1 paper
NM_001001973.3
p.K83E
c.247A>G
1 paper
NM_001001973.3
p.D81N
c.241G>A
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