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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP4B

ATP4B

29 papers

RefSeq Summary

The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and...

Pfam Domains

Na_K-ATPaseaa 7–285UCSCSodium / potassium ATPase beta chain

Gene Aliases

HGNC Name

ATPase H+/K+ transporting subunit beta

HGNC Alias Symbol

ATP6B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 28 variants

3 papers

chr13:113649449 C>T

NM_000705.4

p.A267A

c.801G>A

Na_K-ATPase

Exome: 19.9% (AC=283323, hom=29825)Genome: 18.5% (AC=28112, hom=2863)4 overlapping SVs

2 papers

chr13:113654911 G>A

NM_000705.4

p.Y48Y

c.144C>T

Na_K-ATPase

Exome: 45.6% (AC=667223, hom=155869)Genome: 42.1% (AC=63986, hom=14304)5 overlapping SVs

2 papers

chr13:113652917 C>T

NM_000705.4

p.G171S

c.511G>A

Na_K-ATPase

Exome: 0.0% (AC=33, hom=0)Genome: 0.0% (AC=2, hom=0)6 overlapping SVs

2 papers

chr13:113649507 G>A

NM_000705.4

p.A248V

c.743C>T

Na_K-ATPase

Exome: 1.2% (AC=16416, hom=959)Genome: 6.8% (AC=10288, hom=1040)4 overlapping SVs

1 paper

chr13:113658139 C>T

NM_000705.4

p.A2A

c.6G>A

Exome: 0.0% (AC=42, hom=0)Genome: 0.0% (AC=34, hom=1)6 overlapping SVs

1 paper

chr13:113658133 C>T

NM_000705.4

p.L4L

c.12G>A

Exome: 0.0% (AC=0, hom=0)Genome: n/a6 overlapping SVs

1 paper

chr13:113658089 C>T

NM_000705.4

p.R19H

c.56G>A

Na_K-ATPase

Exome: 0.1% (AC=998, hom=5)Genome: 0.1% (AC=221, hom=1)6 overlapping SVs

1 paper

chr13:113658072 C>G

NM_000705.4

p.D25H

c.73G>C

Na_K-ATPase

exact variant not in gnomAD6 overlapping SVs

1 paper

chr13:113658038 C>T

NM_000705.4

p.R36Q

c.107G>A

Na_K-ATPase

Exome: 0.1% (AC=1284, hom=24)Genome: 0.1% (AC=88, hom=1)6 overlapping SVs

1 paper

chr13:113654922 C>T

NM_000705.4

p.V45M

c.133G>A

Na_K-ATPase

Exome: 0.3% (AC=4188, hom=51)Genome: 0.2% (AC=299, hom=2)5 overlapping SVs

1 paper

chr13:113654921 A>G

NM_000705.4

p.V45A

c.134T>C

Na_K-ATPase

exact variant not in gnomAD5 overlapping SVs

1 paper

chr13:113653416 T>A

NM_000705.4

p.D87V

c.260A>T

Na_K-ATPase

Exome: n/aGenome: 0.0% (AC=1, hom=0)5 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."