Varaico: Literature-Extracted Genetic Variants

ATP1A3

583 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 33–101UCSCCation transporter/ATPase, N-terminus

E1-E2_ATPaseaa 153–265UCSCP-type ATPase actuator domain

Cation_ATPaseaa 407–588UCSCP-type ATPase, cytoplasmic domain N

Cation_ATPase_Caa 789–998UCSCCation transporting ATPase, C-terminus

Gene Aliases

HGNC Name

ATPase Na+/K+ transporting subunit alpha 3

HGNC Previous Symbol

DYT12

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

33 papers

NM_152296.5

p.I758S

c.2273T>G

Surrounding Variants

4 papers

NM_152296.5

p.I758F

c.2272A>T

2 papers

NM_001256214.2

p.L770R

c.2309T>G

1 paper

NM_152296.5

p.F759C

c.2276T>G

11 papers

NM_152296.5

p.L757P

c.2270T>C

2 papers

NM_001256214.2

p.F772L

c.2316C>G

1 paper

NM_001256214.2

p.F772L

c.2316C>A

18 papers

NM_152296.5

p.R756L

c.2267G>T

51 papers

NM_152296.5

p.R756H

c.2267G>A

NM_001256214.2

p.R769H

c.2306G>A

1 paper

NM_001256214.2

p.D773V

c.2318A>T

40 papers

NM_152296.5

p.R756C

c.2266C>T

NM_001256214.2

p.R769C

c.2305C>T

1 paper

NM_152296.5

p.R756S

c.2266C>A

5 papers

NM_152296.5

p.N761H

c.2281A>C