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.K411N

c.1233A>T

Surrounding Variants

1 paper

NM_000702.4

p.K411N

c.1233A>C

3 papers

NM_000702.4

p.R412*

c.1234C>T

13 papers

NM_000702.4

p.T415M

c.1244C>T

1 paper

NM_000702.4

p.T417P

c.1249A>C

1 paper

NM_000702.4

p.G406Splc

c.1217-8C>T

1 paper

NM_000702.4

p.R421*

c.1261C>T

3 papers

NM_000702.4

p.R421Q

c.1262G>A

1 paper

NM_000702.4

p.L425H

c.1274T>A

1 paper

NM_000702.4

p.C426R

c.1276T>C

1 paper

NM_000702.4

p.R428H

c.1283G>A

1 paper

NM_000702.4

p.R428R

c.1284C>A

1 paper

NM_000702.4

p.R428R

c.1284C>T