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

2 papers

NM_152296.5

p.K764del1

c.2290_2291delCTT

Surrounding Variants

9 papers

NM_152296.5

p.Y768H

c.2302T>C

1 paper

NM_001256213.2

p.N772K

c.2316C>A

1 paper

NM_152296.5

p.Y768F

c.2303A>T

6 papers

NM_152296.5

p.Y768C

c.2303A>G

8 papers

NM_152296.5

p.T769P

c.2305A>C

5 papers

NM_152296.5

p.N761H

c.2281A>C

1 paper

NM_001256214.2

p.D773V

c.2318A>T

7 papers

NM_152296.5

p.L770R

c.2309T>G

2 papers

NM_001256214.2

p.F772L

c.2316C>G

1 paper

NM_001256214.2

p.F772L

c.2316C>A

1 paper

NM_152296.5

p.F759C

c.2276T>G

1 paper

NM_152296.5

p.T771S

c.2311A>T