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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP6V1G2

Variant:p.Q41R

ATP6V1G2

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

Gene Aliases

HGNC Name

ATPase H+ transporting V1 subunit G2

HGNC Previous Symbols

ATP6G; ATP6G2

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr6:31546170 T>C

NM_130463.4

p.Q41R

c.122A>G

V-ATPase_G

Exome: 0.0% (AC=32, hom=0)Genome: 0.0% (AC=12, hom=0)57 overlapping SVs

Surrounding Variants

1 paper

chr6:31546198 G>A

NM_130463.4

p.R32*

c.94C>T

V-ATPase_G

Exome: 0.0% (AC=2, hom=0)Genome: 0.0% (AC=5, hom=0)57 overlapping SVs

1 paper

chr6:31546470 A>G

NM_130463.4

p.R28Splc

c.82+8T>C

Exome: 11.4% (AC=166200, hom=11059)Genome: 9.7% (AC=14747, hom=820)57 overlapping SVs

1 paper

chr6:31546479 C>T

NM_130463.4

p.K27K

c.81G>A

V-ATPase_G

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=1, hom=0)57 overlapping SVs

1 paper

chr6:31546558 A>T

NM_130463.4

p.M1K

c.2T>A

exact variant not in gnomAD57 overlapping SVs

1 paper

chr6:31545549 C>CN

NM_130463.4

p.E72fs

c.214_215fs

V-ATPase_G

exact variant not in gnomAD57 overlapping SVs

1 paper

chr6:31545531 C>T

NM_130463.4

p.R78R

c.234G>A

V-ATPase_G

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=3, hom=0)57 overlapping SVs

1 paper

chr6:31545453 G>T

NM_130463.4

p.C104*

c.312C>A

V-ATPase_G

exact variant not in gnomAD57 overlapping SVs

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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."