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.T517N

c.1550C>A

Surrounding Variants

1 paper

NM_000702.4

p.I518V

c.1552A>G

1 paper

NM_000702.4

p.C515*

c.1545C>A

9 papers

NM_000702.4

p.C515Y

c.1544G>A

1 paper

NM_000702.4

p.K523N

c.1569G>C

1 paper

NM_000702.4

p.K523N

c.1569G>T

1 paper

NM_000702.4

p.R510H

c.1529G>A

3 papers

NM_000702.4

p.R510S

c.1528C>A

1 paper

NM_000702.4

p.R510C

c.1528C>T

1 paper

NM_000702.4

p.E524D

c.1572G>C

1 paper

NM_000702.4

p.E524D

c.1572G>T

1 paper

NM_000702.4

p.E509K

c.1525G>A

1 paper

NM_000702.4

p.P526Q

c.1577C>A