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.V304L

c.910G>T

Surrounding Variants

1 paper

NM_000701.8

p.V304L

c.910G>C

2 papers

NM_000701.8

p.V304_L309del6

c.910_926del18

6 papers

NM_000701.8

p.G303R

c.907G>C

2 papers

NM_000701.8

p.L302P

c.905T>C

5 papers

NM_000701.8

p.L302R

c.905T>G

1 paper

NM_000701.8

p.F306_W317del12

c.916_950del36

1 paper

NM_000701.8

p.F306L

c.916T>C

1 paper

NM_000701.8

p.I308_L313del6

c.922_938del18

1 paper

NM_000701.8

p.V300G

c.899T>G

2 papers

NM_000701.8

p.A299_L313del15

c.895_938del45

1 paper

NM_000701.8

p.L309P

c.926T>C

1 paper

NM_000701.8

p.S310C

c.929C>G