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

2 papers

NM_000701.8

p.E151K

c.451G>A

Surrounding Variants

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

2 papers

NM_000701.8

p.Y149ins1

c.446_447insAAC

1 paper

NM_000701.8

p.Y149_Q150ins1

c.447_448insATT

1 paper

NM_000701.8

p.K153_M164ins4

c.457_492dup36

3 papers

NM_000701.8

p.Y149ins1

c.446_447insGAA

1 paper

NM_000701.8

p.Y149ins1

c.445_446insGAA

1 paper

NM_000701.8

p.Y149ins1

c.445_446insTGG

1 paper

NM_000701.8

p.Y149_Q150del1

c.446_448delATC

3 papers

NM_000701.8

p.Y148*

c.444C>A

3 papers

NM_000701.8

p.Y148*

c.444C>G