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.L542fs

c.1624_1625fs

Surrounding Variants

1 paper

NM_000702.4

p.E541D

c.1623G>C

1 paper

NM_000702.4

p.E541D

c.1623G>T

1 paper

NM_000702.4

p.E541Q

c.1621G>C

1 paper

NM_000702.4

p.Y539Y

c.1617C>T

14 papers

NM_000702.4

p.R548C

c.1642C>T

21 papers

NM_000702.4

p.R548H

c.1643G>A

1 paper

NM_000702.4

p.G551R

c.1651G>A

1 paper

NM_000702.4

p.G551R

c.1651G>C

1 paper

NM_000702.4

p.Q532fs

c.1594_1595fs

1 paper

NM_000702.4

p.Q532E

c.1594C>G

1 paper

NM_000702.4

p.E530G

c.1589A>G

1 paper

NM_000702.4

p.E530Q

c.1588G>C