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

1–12 of 617 variants

67 papers

NM_000702.4

p.W887R

c.2659T>A

67 papers

NM_000702.4

p.W887R

c.2659T>C

59 papers

NM_000702.4

p.G301R

c.901G>A

59 papers

NM_000702.4

p.G301R

c.901G>C

37 papers

NM_000702.4

p.P979L

c.2936C>T

33 papers

NM_000702.4

p.R689Q

c.2066G>A

32 papers

NM_000702.4

p.M731T

c.2192T>C

32 papers

NM_000702.4

p.L764P

c.2291T>C

27 papers

NM_000702.4

p.T345A

c.1033A>G

25 papers

NM_000702.4

p.A606T

c.1816G>A

25 papers

NM_000702.4

p.D718N

c.2152G>A

25 papers

NM_000702.4

p.R908Q

c.2723G>A