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

59 papers

NM_000702.4

p.G301R

c.901G>C

Surrounding Variants

59 papers

NM_000702.4

p.G301R

c.901G>A

1 paper

NM_000702.4

p.G301E

c.902G>A

3 papers

NM_000702.4

p.G301A

c.902G>C

1 paper

NM_000702.4

p.G301V

c.902G>T

1 paper

NM_000702.4

p.V302delFs

c.904delG

1 paper

NM_000702.4

p.F299I

c.895T>A

2 papers

NM_000702.4

p.F305del1

c.913_914delTTC

1 paper

NM_000702.4

p.V298L

c.892G>C

1 paper

NM_000702.4

p.V298L

c.892G>T

8 papers

NM_000702.4

p.A297T

c.889G>A

1 paper

NM_000702.4

p.V306L

c.916G>C

1 paper

NM_000702.4

p.V306L

c.916G>T