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.T804A

c.2410A>G

Surrounding Variants

2 papers

NM_000701.8

p.T804N

c.2411C>A

2 papers

NM_000701.8

p.T804I

c.2411C>T

1 paper

NM_000701.8

p.G803A

c.2408G>C

1 paper

NM_000701.8

p.L802L

c.2406G>A

1 paper

NM_000701.8

p.L802P

c.2405T>C

1 paper

NM_000701.8

p.L800P

c.2399T>C

1 paper

NM_000701.8

p.I810F

c.2428A>T

6 papers

NM_000701.8

p.I810N

c.2429T>A

8 papers

NM_000701.8

p.D811A

c.2432A>C

1 paper

NM_000701.8

p.G813S

c.2437G>A

2 papers

NM_000701.8

p.D815N

c.2443G>A

1 paper

NM_000701.8

p.P789L

c.2366C>T