Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP6V1G3

ATP6V1G3

9 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 G3

HGNC Alias Symbols

ATP6G3; Vma10

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1 paper

chr1:198540640 T>C

NM_001376861.1

p.Q4R

c.11A>G

V-ATPase_G

exact variant not in gnomAD162 overlapping SVs

1 paper

chr1:198540629 T>TC

NM_001376861.1

p.G7insFs

c.19_20insG

V-ATPase_G

exact variant not in gnomAD162 overlapping SVs

1 paper

chr1:198540625 T>C

NM_001376861.1

p.H9R

c.26A>G

V-ATPase_G

exact variant not in gnomAD162 overlapping SVs

1 paper

chr1:198540602 G>A

NM_001376861.1

p.R17W

c.49C>T

V-ATPase_G

Exome: 0.0% (AC=119, hom=0)Genome: 0.0% (AC=6, hom=0)162 overlapping SVs

1 paper

chr1:198536701 G>A

NM_133326.2

p.R36*

c.106C>T

Exome: 0.2% (AC=3161, hom=85)Genome: 1.8% (AC=2762, hom=69)162 overlapping SVs

1 paper

chr1:198529172 T>C

NM_001376861.1

p.K31R

c.92A>G

V-ATPase_G

Exome: 0.0% (AC=1, hom=0)Genome: n/a162 overlapping SVs

1 paper

chr1:198529157 G>A

NM_001376861.1

p.A36V

c.107C>T

V-ATPase_G

Exome: 0.0% (AC=0, hom=0)Genome: n/a162 overlapping SVs

1 paper

chr1:198529085 G>T

NM_001376861.1

p.S60Y

c.179C>A

V-ATPase_G

Exome: 0.0% (AC=1, hom=0)Genome: n/a162 overlapping SVs

1 paper

chr1:198523419 A>G

NM_001376861.1

p.I110T

c.329T>C

exact variant not in gnomAD162 overlapping SVs

1 paper

chr1:198523404 C>T

NM_001376861.1

p.R115K

c.344G>A

Exome: n/aGenome: 0.0% (AC=1, hom=0)162 overlapping SVs

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."