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.F161del1

c.481_482delTTC

Surrounding Variants

1 paper

NM_000701.8

p.K162delFs

c.484delA

1 paper

NM_000701.8

p.K162fs

c.484_485fs

1 paper

NM_000701.8

p.M158V

c.472A>G

10 papers

NM_000701.8

p.I157S

c.470T>G

2 papers

NM_000701.8

p.I157delins

c.470_471delinsAA

5 papers

NM_000701.8

p.I157del1

c.469_470delATC

1 paper

NM_000701.8

p.K156_I157del1

c.467_469delAGA

1 paper

NM_000701.8

p.K153_M164ins4

c.457_492dup36

2 papers

NM_000701.8

p.E151K

c.451G>A

4 papers

NM_000701.8

p.E151Q

c.451G>C

2 papers

NM_000701.8

p.Q150_E151ins1

c.450_451insATG

1 paper

NM_000701.8

p.Q150ins3

c.448_449ins9