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

19 papers

NM_000701.8

p.G99R

c.295G>C

Surrounding Variants

19 papers

NM_000701.8

p.G99R

c.295G>A

4 papers

NM_000701.8

p.F100_W105del0

c.299_313del15

2 papers

NM_000701.8

p.F100L

c.298T>C

1 paper

NM_000701.8

p.F97L

c.291T>A

1 paper

NM_000701.8

p.F97L

c.291T>G

2 papers

NM_000701.8

p.F100L

c.300C>A

2 papers

NM_000701.8

p.F100L

c.300C>G

1 paper

NM_000701.8

p.F97L

c.289T>C

4 papers

NM_000701.8

p.M102_L103del0

c.304_309del6

1 paper

NM_000701.8

p.F97delFs

c.291delT

2 papers

NM_000701.8

p.M102_I106del0

c.306_317del12

2 papers

NM_000701.8

p.L103_W105del0

c.308_313del6