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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP1B3

ATP1B3

26 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsi...

Pfam Domains

Na_K-ATPaseaa 6–273UCSCSodium / potassium ATPase beta chain

Gene Aliases

HGNC Name

ATPase Na+/K+ transporting subunit beta 3

HGNC Alias Symbols

FLJ29027; CD298

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 16 variants

1 paper

chr3:141876844 G>A

NM_001679.4

p.E15K

c.43G>A

Na_K-ATPase

Exome: 0.0% (AC=0, hom=0)Genome: n/a74 overlapping SVs

1 paper

chr3:141876844 G>C

NM_001679.4

p.E15Q

c.43G>C

Na_K-ATPase

exact variant not in gnomAD74 overlapping SVs

1 paper

chr3:141876848 G>A

NM_001679.4

p.W16*

c.47G>A

Na_K-ATPase

Exome: 0.0% (AC=0, hom=0)Genome: n/a74 overlapping SVs

1 paper

chr3:141876870 G>C

NM_001679.4

p.P23P

c.69G>C

Na_K-ATPase

Exome: 0.0% (AC=1, hom=0)Genome: n/a74 overlapping SVs

1 paper

chr3:141876890 G>A

NM_001679.4

p.G30E

c.89G>A

Na_K-ATPase

exact variant not in gnomAD74 overlapping SVs

1 paper

chr3:141876897 C>T

NM_001679.4

p.T32T

c.96C>T

Na_K-ATPase

Exome: 0.1% (AC=2061, hom=6)Genome: 0.1% (AC=153, hom=0)74 overlapping SVs

1 paper

chr3:141903638 A>G

NM_001679.4

p.Y43C

c.128A>G

Na_K-ATPase

Exome: 0.0% (AC=5, hom=0)Genome: n/a72 overlapping SVs

1 paper

chr3:141903643 G>GN

NM_001679.4

p.V45fs

c.133_134fs

Na_K-ATPase

exact variant not in gnomAD72 overlapping SVs

1 paper

chr3:141903680 C>T

NM_001679.4

p.T57M

c.170C>T

Na_K-ATPase

Exome: 0.0% (AC=17, hom=1)Genome: 0.0% (AC=4, hom=0)72 overlapping SVs

1 paper

chr3:141903712 G>A

NM_001679.4

p.E68K

c.202G>A

Na_K-ATPase

exact variant not in gnomAD72 overlapping SVs

1 paper

chr3:141907188 C>T

NM_001679.4

p.P87L

c.260C>T

Na_K-ATPase

Exome: 0.0% (AC=0, hom=0)Genome: n/a72 overlapping SVs

1 paper

chr3:141907239 C>A

NM_001679.4

p.A104E

c.311C>A

Na_K-ATPase

Exome: 0.0% (AC=313, hom=0)Genome: 0.0% (AC=13, hom=0)72 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."