Varaico: Literature-Extracted Genetic Variants

ATP1A2

502 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for estab...

Pfam Domains

Cation_ATPase_Naa 41–109UCSCCation transporter/ATPase, N-terminus

E1-E2_ATPaseaa 161–273UCSCP-type ATPase actuator domain

Cation_ATPaseaa 415–595UCSCP-type ATPase, cytoplasmic domain N

Cation_ATPase_Caa 796–1005UCSCCation transporting ATPase, C-terminus

Gene Aliases

HGNC Name

ATPase Na+/K+ transporting subunit alpha 2

HGNC Previous Symbol

MHP2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000702.4

p.C702S

c.2104T>A

Surrounding Variants

1 paper

NM_000702.4

p.C702delFs

c.2104_2105delTG

6 papers

NM_000702.4

p.C702Y

c.2105G>A

1 paper

NM_000702.4

p.C702S

c.2105G>C

1 paper

NM_000702.4

p.G701V

c.2102G>T

18 papers

NM_000702.4

p.E700K

c.2098G>A

1 paper

NM_000702.4

p.Q694H

c.2082G>C

1 paper

NM_000702.4

p.Q693L

c.2078A>T

1 paper

NM_000702.4

p.Q693K

c.2077C>A

1 paper

NM_000702.4

p.Q693delFs

c.2078delA

33 papers

NM_000702.4

p.R689Q

c.2066G>A

1 paper

NM_000702.4

p.R689*

c.2065C>T

1 paper

NM_000702.4

p.A688S

c.2062G>T