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.V759L

c.2275G>C

Surrounding Variants

1 paper

NM_000702.4

p.V759M

c.2275G>A

6 papers

NM_000702.4

p.G758A

c.2273G>C

3 papers

NM_000702.4

p.G762S

c.2284G>A

1 paper

NM_000702.4

p.G762A

c.2285G>C

1 paper

NM_000702.4

p.I755V

c.2263A>G

4 papers

NM_000702.4

p.A753A

c.2259C>T

1 paper

NM_000702.4

p.S754delFs

c.2260delT

1 paper

NM_000702.4

p.I746I

c.2238C>T

5 papers

NM_000702.4

p.M745I

c.2235G>A

5 papers

NM_000702.4

p.M745I

c.2235G>C

5 papers

NM_000702.4

p.M745I

c.2235G>T

2 papers

NM_000702.4

p.M745V

c.2233A>G