Varaico: Literature-Extracted Genetic Variants

ATP1A1

353 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 43–111UCSCCation transporter/ATPase, N-terminus

E1-E2_ATPaseaa 163–275UCSCP-type ATPase actuator domain

Cation_ATPaseaa 417–598UCSCP-type ATPase, cytoplasmic domain N

Cation_ATPase_Caa 799–1008UCSCCation transporting ATPase, C-terminus

Gene Aliases

HGNC Name

ATPase Na+/K+ transporting subunit alpha 1

HGNC Previous Name

ATPase, Na+/K+ transporting, alpha 1 polypeptide

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

4 papers

NM_000701.8

p.I327S

c.980T>G

Surrounding Variants

1 paper

NM_000701.8

p.G326S

c.976G>A

1 paper

NM_000701.8

p.V329I

c.985G>A

1 paper

NM_000701.8

p.V329E

c.986T>A

1 paper

NM_000701.8

p.A330T

c.988G>A

37 papers

NM_000701.8

p.V332G

c.995T>G

1 paper

NM_000701.8

p.V332_P333delins

c.995_997delinsACA

1 paper

NM_000701.8

p.V332V

c.996G>A

2 papers

NM_000701.8

p.P333R

c.998C>G

1 paper

NM_000701.8

p.P333L

c.998C>T

1 paper

NM_000701.8

p.V321_I325del0

c.962_973del12

1 paper

NM_000701.8

p.A320_I322delFs

c.960_964del5

2 papers

NM_000701.8

p.G335C

c.1003G>T