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.W315C

c.945G>C

Surrounding Variants

1 paper

NM_000702.4

p.W315C

c.945G>T

1 paper

NM_000702.4

p.S314N

c.941G>A

1 paper

NM_000702.4

p.V319L

c.955G>C

1 paper

NM_000702.4

p.V319D

c.956T>A

1 paper

NM_000702.4

p.L311V

c.931C>G

2 papers

NM_000702.4

p.F321L

c.961T>C

4 papers

NM_000702.4

p.G324S

c.970G>A

1 paper

NM_000702.4

p.V306L

c.916G>C

1 paper

NM_000702.4

p.V306L

c.916G>T

1 paper

NM_000702.4

p.I326R

c.977T>G

2 papers

NM_000702.4

p.F305del1

c.913_914delTTC

1 paper

NM_000702.4

p.G301E

c.902G>A