Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1G1

ATP6V1G1

25 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_Gaa 3–107UCSCVacuolar (H+)-ATPase G subunit

Gene Aliases

HGNC Name

ATPase H+ transporting V1 subunit G1

HGNC Previous Symbols

ATP6J; ATP6G1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
5 papers
NM_004888.4
p.E39A
c.116A>C
1 paper
NM_004888.4
p.Q13delFs
c.37_38delCA
1 paper
NM_004888.4
p.A14T
c.40G>A
1 paper
NM_004888.4
p.K16R
c.47A>G
1 paper
NM_004888.4
p.R31W
c.91C>T
1 paper
NM_004888.4
p.K37_E38del2
c.109_113del6
1 paper
NM_004888.4
p.K37_E38del1
c.110_112delAAG
1 paper
NM_004888.4
p.R48G
c.142C>G
1 paper
NM_004888.4
p.R66H
c.197G>A
1 paper
NM_004888.4
p.K75insFs
c.224dupA
1 paper
NM_004888.4
p.T77A
c.229A>G
1 paper
NM_004888.4
p.R89Q
c.266G>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."