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.A595S

c.1783G>T

Surrounding Variants

2 papers

NM_000702.4

p.R593Q

c.1778G>A

1 paper

NM_000702.4

p.R593L

c.1778G>T

18 papers

NM_000702.4

p.R593W

c.1777C>T

1 paper

NM_000702.4

p.P592S

c.1774C>T

1 paper

NM_000702.4

p.D590A

c.1769A>C

1 paper

NM_000702.4

p.V600A

c.1799T>C

4 papers

NM_000702.4

p.I589T

c.1766T>C

1 paper

NM_000702.4

p.R604Q

c.1811G>A

4 papers

NM_000702.4

p.R604P

c.1811G>C

1 paper

NM_000702.4

p.L585I

c.1753C>A

1 paper

NM_000702.4

p.S605S

c.1815C>T

1 paper

NM_000702.4

p.G584V

c.1751G>T