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.R74R

c.222A>G

Surrounding Variants

1 paper

NM_000701.8

p.R74Q

c.221G>A

1 paper

NM_000701.8

p.P83delFs

c.248delC

1 paper

NM_000701.8

p.R67H

c.200G>A

1 paper

NM_000701.8

p.A66A

c.198T>A

1 paper

NM_000701.8

p.P84S

c.250C>T

1 paper

NM_000701.8

p.T86A

c.256A>G

1 paper

NM_000701.8

p.C93Y

c.278G>A

1 paper

NM_000701.8

p.R94W

c.280C>T

1 paper

NM_000701.8

p.R94Q

c.281G>A

1 paper

NM_000701.8

p.Q95*

c.283C>T

1 paper

NM_000701.8

p.F97delFs

c.291delT

1 paper

NM_000701.8

p.F97L

c.289T>C