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

32 papers

NM_000702.4

p.L764P

c.2291T>C

Surrounding Variants

22 papers

NM_000702.4

p.R763H

c.2288G>A

3 papers

NM_000702.4

p.R763L

c.2288G>T

10 papers

NM_000702.4

p.R763C

c.2287C>T

1 paper

NM_000702.4

p.G762A

c.2285G>C

1 paper

NM_000702.4

p.G762Splc

c.2285-2A>C

8 papers

NM_000702.4

p.Y775C

c.2324A>G

1 paper

NM_000702.4

p.Y775F

c.2324A>T

1 paper

NM_000702.4

p.S779R

c.2335A>C

5 papers

NM_000702.4

p.S779N

c.2336G>A

1 paper

NM_000702.4

p.S779R

c.2337C>A

1 paper

NM_000702.4

p.S779R

c.2337C>G

1 paper

NM_000702.4

p.G762Splc

c.2285-47G>A