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.W105*

c.314G>A

Surrounding Variants

1 paper

NM_000701.8

p.W105*

c.315G>A

2 papers

NM_000701.8

p.L104P

c.311T>C

64 papers

NM_000701.8

p.L104R

c.311T>G

1 paper

NM_000701.8

p.L104V

c.310C>G

1 paper

NM_000701.8

p.L104del1

c.310_311delCTG

2 papers

NM_000701.8

p.G107R

c.319G>A

2 papers

NM_000701.8

p.G107R

c.319G>C

1 paper

NM_000701.8

p.M102I

c.306G>A

1 paper

NM_000701.8

p.M102I

c.306G>C

1 paper

NM_000701.8

p.M102I

c.306G>T

2 papers

NM_000701.8

p.L103del1

c.307_308delTTA

1 paper

NM_000701.8

p.A108E

c.323C>A