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.K357N

c.1071G>T

Surrounding Variants

1 paper

NM_000702.4

p.K357N

c.1071G>C

1 paper

NM_000702.4

p.E360V

c.1079A>T

2 papers

NM_000702.4

p.A361V

c.1082C>T

11 papers

NM_000702.4

p.V362E

c.1085T>A

11 papers

NM_000702.4

p.T364M

c.1091C>T

2 papers

NM_000702.4

p.G366C

c.1096G>T

1 paper

NM_000702.4

p.G366D

c.1097G>A

1 paper

NM_000702.4

p.G366A

c.1097G>C

1 paper

NM_000702.4

p.G366V

c.1097G>T

1 paper

NM_000702.4

p.R348R

c.1044C>T

1 paper

NM_000702.4

p.R348H

c.1043G>A

3 papers

NM_000702.4

p.R348P

c.1043G>C