Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1C2
Variant:p.T225S

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.T225S
c.673A>T
Surrounding Variants
1 paper
NM_001039362.2
p.T225S
c.674C>G
1 paper
NM_001039362.2
p.N243K
c.729C>A
1 paper
NM_001039362.2
p.N243K
c.729C>G
1 paper
NM_001039362.2
p.K255_E256delFs
c.764_768del5
1 paper
NM_001039362.2
p.Y275_Q276Splc
c.825+19A>G
1 paper
NM_001039362.2
p.T212A
c.634A>G
1 paper
NM_001039362.2
p.K283E
c.847A>G
1 paper
NM_001039362.2
p.G285E
c.854G>A
1 paper
NM_001039362.2
p.S287P
c.859T>C
1 paper
NM_001039362.2
p.H292N
c.874C>A
2 papers
NM_001039362.2
p.P298L
c.893C>T
2 papers
NM_001039362.2
p.G308E
c.923G>A
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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."