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

8 papers

NM_000701.8

p.L48R

c.143T>G

Surrounding Variants

1 paper

NM_000701.8

p.D49N

c.145G>A

2 papers

NM_000701.8

p.S47I

c.140G>T

1 paper

NM_000701.8

p.E50_R61del12

c.148_182del36

1 paper

NM_000701.8

p.E50Q

c.148G>C

1 paper

NM_000701.8

p.E50V

c.149A>T

1 paper

NM_000701.8

p.L51_T57del7

c.151_170del21

1 paper

NM_000701.8

p.R53C

c.157C>T

3 papers

NM_000701.8

p.R53H

c.158G>A

1 paper

NM_000701.8

p.R53L

c.158G>T

1 paper

NM_000701.8

p.R61G

c.181C>G

2 papers

NM_000701.8

p.R61_G62Splc

c.183+4T>C

1 paper

NM_000701.8

p.D31A

c.92A>C