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

1 paper

NM_000701.8

p.G252D

c.755G>A

Surrounding Variants

1 paper

NM_000701.8

p.I257I

c.771T>A

5 papers

NM_000701.8

p.V259D

c.776T>A

2 papers

NM_000701.8

p.V259G

c.776T>G

1 paper

NM_000701.8

p.T261A

c.781A>G

1 paper

NM_000701.8

p.R264H

c.791G>A

1 paper

NM_000701.8

p.G268G

c.804A>T

1 paper

NM_000701.8

p.S275Y

c.824C>A

1 paper

NM_000701.8

p.T282S

c.844A>T

1 paper

NM_000701.8

p.T282S

c.845C>G

1 paper

NM_000701.8

p.I292T

c.875T>C

1 paper

NM_000701.8

p.G297G

c.891T>C

2 papers

NM_000701.8

p.A299_L313del15

c.895_938del45