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

9 papers

NM_000701.8

p.G877S

c.2629G>A

Surrounding Variants

1 paper

NM_000701.8

p.G877D

c.2630G>A

1 paper

NM_000701.8

p.F866L

c.2598C>A

1 paper

NM_000701.8

p.F866L

c.2598C>G

1 paper

NM_000701.8

p.R887Q

c.2660G>A

1 paper

NM_000701.8

p.F866L

c.2596T>C

1 paper

NM_000701.8

p.G864E

c.2591G>A

5 papers

NM_000701.8

p.G864R

c.2590G>A

5 papers

NM_000701.8

p.G864R

c.2590G>C

1 paper

NM_000701.8

p.W890*

c.2669G>A

1 paper

NM_000701.8

p.L863M

c.2587C>A

1 paper

NM_000701.8

p.D891N

c.2671G>A

1 paper

NM_000701.8

p.D891H

c.2671G>C