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.K375_T376insFs

c.1124_1127dup4

Surrounding Variants

1 paper

NM_000702.4

p.T376A

c.1126A>G

23 papers

NM_000702.4

p.T376M

c.1127C>T

5 papers

NM_000702.4

p.S373S

c.1119G>A

1 paper

NM_000702.4

p.G377R

c.1129G>C

1 paper

NM_000702.4

p.G377D

c.1130G>A

1 paper

NM_000702.4

p.C372Y

c.1115G>A

1 paper

NM_000702.4

p.T378S

c.1132A>T

20 papers

NM_000702.4

p.T378N

c.1133C>A

1 paper

NM_000702.4

p.T378S

c.1133C>G

6 papers

NM_000702.4

p.T378I

c.1133C>T

2 papers

NM_000702.4

p.T370N

c.1109C>A

1 paper

NM_000702.4

p.T380A

c.1138A>G