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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP6V1C1

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

2 papers

chr8:103064750 G>A

NM_001695.5

p.E289K

c.865G>A

V-ATPase_C

exact variant not in gnomAD26 overlapping SVs

2 papers

chr8:103066342 C>T

NM_001695.5

p.F316F

c.948C>T

V-ATPase_C

Exome: 0.0% (AC=135, hom=1)Genome: 0.1% (AC=126, hom=0)28 overlapping SVs

1 paper

chr8:103040896 GA>G

NM_001695.5

p.K21delFs

c.61delA

V-ATPase_C

exact variant not in gnomAD27 overlapping SVs

1 paper

chr8:103040897 AAA>N

NM_001695.5

p.K21fs

c.61_62fs

V-ATPase_C

exact variant not in gnomAD27 overlapping SVs

1 paper

chr8:103052792 G>A

NM_001695.5

p.G148E

c.443G>A

V-ATPase_C

Exome: 0.0% (AC=2, hom=0)Genome: n/a26 overlapping SVs

1 paper

chr8:103053957 G>T

NM_001695.5

p.V183F

c.547G>T

V-ATPase_C

Exome: 0.0% (AC=2, hom=0)Genome: n/a26 overlapping SVs

1 paper

chr8:103055886 G>T

NM_001695.5

p.W197C

c.591G>T

V-ATPase_C

exact variant not in gnomAD26 overlapping SVs

1 paper

chr8:103055932 A>G

NM_001695.5

p.S213G

c.637A>G

V-ATPase_C

exact variant not in gnomAD26 overlapping SVs

1 paper

chr8:103063215 A>C

NM_001695.5

p.K272T

c.815A>C

V-ATPase_C

exact variant not in gnomAD26 overlapping SVs

1 paper

chr8:103064727 G>C

NM_001695.5

p.R281P

c.842G>C

V-ATPase_C

exact variant not in gnomAD26 overlapping SVs

1 paper

chr8:103066439 A>G

NM_001695.5

p.I349V

c.1045A>G

V-ATPase_C

Exome: 0.0% (AC=8, hom=0)Genome: 0.0% (AC=4, hom=0)28 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."