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.P720_A721del2

c.2158_2162del6

Surrounding Variants

1 paper

NM_000702.4

p.P720L

c.2159C>T

4 papers

NM_000702.4

p.A721T

c.2161G>A

25 papers

NM_000702.4

p.D718N

c.2152G>A

1 paper

NM_000702.4

p.D718H

c.2152G>C

9 papers

NM_000702.4

p.N717K

c.2151C>A

9 papers

NM_000702.4

p.N717K

c.2151C>G

1 paper

NM_000702.4

p.G715E

c.2144G>A

12 papers

NM_000702.4

p.G715R

c.2143G>A

12 papers

NM_000702.4

p.G715R

c.2143G>C

1 paper

NM_000702.4

p.V711M

c.2131G>A

3 papers

NM_000702.4

p.V711L

c.2131G>C

3 papers

NM_000702.4

p.V711L

c.2131G>T