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.I792V

c.2374A>G

Surrounding Variants

1 paper

NM_000702.4

p.A793T

c.2377G>A

11 papers

NM_000702.4

p.P796S

c.2386C>T

14 papers

NM_000702.4

p.P796R

c.2387C>G

10 papers

NM_000702.4

p.P786L

c.2357C>T

1 paper

NM_000702.4

p.P786S

c.2356C>T

1 paper

NM_000702.4

p.P798L

c.2393C>T

1 paper

NM_000702.4

p.I784T

c.2351T>C

1 paper

NM_000702.4

p.I784V

c.2350A>G

2 papers

NM_000702.4

p.P782R

c.2345C>G

1 paper

NM_000702.4

p.S779R

c.2337C>A

1 paper

NM_000702.4

p.S779R

c.2337C>G

5 papers

NM_000702.4

p.S779N

c.2336G>A