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.K22R

c.65A>G

Surrounding Variants

1 paper

NM_000701.8

p.K21Q

c.61A>C

1 paper

NM_000701.8

p.G23G

c.69C>A

2 papers

NM_000701.8

p.K25delFs

c.74delA

1 paper

NM_000701.8

p.K21_G23del0

c.61_69del9

1 paper

NM_000701.8

p.K24T

c.71A>C

1 paper

NM_000701.8

p.K25fs

c.73_74fs

1 paper

NM_000701.8

p.K25T

c.74A>C

1 paper

NM_000701.8

p.G26G

c.78C>A

1 paper

NM_000701.8

p.E17_G19delFs

c.51_57del7

1 paper

NM_000701.8

p.K27K

c.81A>G

1 paper

NM_000701.8

p.E17_K21del0

c.50_61del12

1 paper

NM_000701.8

p.A14P

c.40G>C