Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1C2
Variant:p.V118A

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
1 paper
NM_001039362.2
p.V118A
c.353T>C
Surrounding Variants
2 papers
NM_001039362.2
p.V118M
c.352G>A
2 papers
NM_001039362.2
p.V118L
c.352G>C
2 papers
NM_001039362.2
p.V118L
c.352G>T
1 paper
NM_001039362.2
p.F100F
c.300T>C
1 paper
NM_001039362.2
p.T139M
c.416C>T
1 paper
NM_001039362.2
p.A141T
c.421G>A
12 papers
NM_001039362.2
p.N143D
c.427A>G
1 paper
NM_001039362.2
p.K155*
c.463A>T
1 paper
NM_001039362.2
p.R163Q
c.488G>A
2 papers
NM_001039362.2
p.S166delFs
c.497delG
1 paper
NM_001039362.2
p.D167Y
c.499G>T
2 papers
NM_001039362.2
p.I168T
c.503T>C
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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."