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.G568R

c.1702G>A

Surrounding Variants

1 paper

NM_000701.8

p.G568R

c.1702G>C

1 paper

NM_000701.8

p.E567*

c.1699G>T

1 paper

NM_000701.8

p.P566S

c.1696C>T

1 paper

NM_000701.8

p.D572N

c.1714G>A

2 papers

NM_000701.8

p.P579T

c.1735C>A

4 papers

NM_000701.8

p.I580V

c.1738A>G

1 paper

NM_000701.8

p.C584delFs

c.1750_1751delTG

1 paper

NM_000701.8

p.M591I

c.1773G>A

1 paper

NM_000701.8

p.M591I

c.1773G>C

1 paper

NM_000701.8

p.M591I

c.1773G>T

10 papers

NM_000701.8

p.I592T

c.1775T>C

8 papers

NM_000701.8

p.A597T

c.1789G>A