Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V0C
Variant:p.A95V

ATP6V0C

35 papers

RefSeq Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is nec...

Pfam Domains

ATP-synt_Caa 17–76UCSCATP synthase subunit C
ATP-synt_Caa 93–152UCSCATP synthase subunit C

Gene Aliases

HGNC Name

ATPase H+ transporting V0 subunit c

HGNC Previous Symbols

ATPL; ATP6C; ATP6L

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_001694.4
p.A95V
c.284C>T
Surrounding Variants
1 paper
NM_001694.4
p.G96_V99del0
c.286_297del12
2 papers
NM_001694.4
p.A95T
c.283G>A
2 papers
NM_001694.4
p.A95P
c.283G>C
2 papers
NM_001694.4
p.S98R
c.292A>C
2 papers
NM_001694.4
p.S98R
c.294C>A
2 papers
NM_001694.4
p.S98R
c.294C>G
1 paper
NM_001694.4
p.S89C
c.265A>T
1 paper
NM_001694.4
p.G103S
c.307G>A
1 paper
NM_001694.4
p.G107R
c.319G>C
1 paper
NM_001694.4
p.I110V
c.328A>G
1 paper
NM_001694.4
p.I110I
c.330C>T
1 paper
NM_001694.4
p.G114_R119delFs
c.340_355del16
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