Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1C2
Variant:p.R312delFs

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.R312delFs
c.934_935delAG
Surrounding Variants
1 paper
NM_001039362.2
p.D311_R312insFs
c.933_934insAG
1 paper
NM_001039362.2
p.R312_E313delFs
c.934_937del4
1 paper
NM_001039362.2
p.R312fs
c.934_935fs
1 paper
NM_001039362.2
p.D311fs
c.931_932fs
2 papers
NM_001039362.2
p.G308E
c.923G>A
1 paper
NM_001039362.2
p.S316fs
c.946_947fs
1 paper
NM_001039362.2
p.S316R
c.946A>C
1 paper
NM_001039362.2
p.S316R
c.948T>A
1 paper
NM_001039362.2
p.S316R
c.948T>G
2 papers
NM_001039362.2
p.P298L
c.893C>T
1 paper
NM_001039362.2
p.H292N
c.874C>A
1 paper
NM_001039362.2
p.S287P
c.859T>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."