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.K981Splc

c.2942+4A>G

Surrounding Variants

37 papers

NM_000702.4

p.P979L

c.2936C>T

1 paper

NM_000702.4

p.M977T

c.2930T>C

1 paper

NM_000702.4

p.L975F

c.2923C>T

12 papers

NM_000702.4

p.S966fs

c.2896_2897fs

2 papers

NM_000702.4

p.S966delFs

c.2897_2898delCT

1 paper

NM_000702.4

p.A960E

c.2879C>A

2 papers

NM_000702.4

p.T959T

c.2877G>A

1 paper

NM_000702.4

p.T959K

c.2876C>A

3 papers

NM_000702.4

p.T959M

c.2876C>T

1 paper

NM_000702.4

p.E958Q

c.2872G>C

3 papers

NM_000702.4

p.E957*

c.2869G>T

2 papers

NM_000702.4

p.G954R

c.2860G>A