Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1C2
Variant:p.V75M

ATP6V1C2

61 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

V-ATPase_Caa 4–427UCSCV-ATPase subunit C

Gene Aliases

HGNC Name

ATPase H+ transporting V1 subunit C2

HGNC Alias Symbols

VMA5; ATP6C2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001039362.2
p.V75M
c.223G>A
Surrounding Variants
1 paper
NM_001039362.2
p.M71K
c.212T>A
1 paper
NM_001039362.2
p.L90V
c.268C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."