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

1–12 of 429 variants

64 papers

NM_000701.8

p.L104R

c.311T>G

37 papers

NM_000701.8

p.V332G

c.995T>G

19 papers

NM_000701.8

p.G99R

c.295G>A

19 papers

NM_000701.8

p.G99R

c.295G>C

10 papers

NM_000701.8

p.I157S

c.470T>G

10 papers

NM_000701.8

p.I592T

c.1775T>C

9 papers

NM_000701.8

p.P600T

c.1798C>A

9 papers

NM_000701.8

p.G877S

c.2629G>A

8 papers

NM_000701.8

p.L48R

c.143T>G

8 papers

NM_000701.8

p.A597T

c.1789G>A

8 papers

NM_000701.8

p.P600A

c.1798C>G

8 papers

NM_000701.8

p.D811A

c.2432A>C