Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1C1
Variant:p.K21delFs

ATP6V1C1

18 papers

RefSeq Summary

This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of intracellular compartments of eukaryotic cells. V-ATPase dependent acidification is ne...

Pfam Domains

V-ATPase_Caa 4–370UCSCV-ATPase subunit C

Gene Aliases

HGNC Name

ATPase H+ transporting V1 subunit C1

HGNC Previous Symbols

ATP6D; ATP6C

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001695.5
p.K21delFs
c.61delA
Surrounding Variants
1 paper
NM_001695.5
p.K21fs
c.61_62fs
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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."