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

2 papers

NM_000702.4

p.G874S

c.2620G>A

Surrounding Variants

1 paper

NM_000702.4

p.A871T

c.2611G>A

9 papers

NM_000702.4

p.R879W

c.2635C>T

10 papers

NM_000702.4

p.R879Q

c.2636G>A

1 paper

NM_000702.4

p.V868L

c.2602G>C

1 paper

NM_000702.4

p.V868L

c.2602G>T

3 papers

NM_000702.4

p.I883L

c.2647A>C

1 paper

NM_000702.4

p.R884C

c.2650C>T

1 paper

NM_000702.4

p.R884H

c.2651G>A

67 papers

NM_000702.4

p.W887R

c.2659T>A

67 papers

NM_000702.4

p.W887R

c.2659T>C

2 papers

NM_000702.4

p.R890Q

c.2669G>A

1 paper

NM_000702.4

p.G855E

c.2564G>A