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

8 papers

NM_152296.5

p.D805N

c.2413G>A

NM_001256214.2

p.D818N

c.2452G>A

Surrounding Variants

7 papers

NM_152296.5

p.D805H

c.2413G>C

14 papers

NM_152296.5

p.T804I

c.2411C>T

12 papers

NM_152296.5

p.D805E

c.2415C>G

12 papers

NM_152296.5

p.D805E

c.2415C>A

16 papers

NM_152296.5

p.M806R

c.2417T>G

7 papers

NM_152296.5

p.M806K

c.2417T>A

5 papers

NM_152296.5

p.G803D

c.2408G>A

4 papers

NM_001256214.2

p.L815R

c.2444T>G

NM_152296.5

p.L802R

c.2405T>G

8 papers

NM_152296.5

p.L802P

c.2405T>C

1 paper

NM_152296.5

p.M806_V807Splc

c.2418+3G>A

13 papers

NM_152296.5

p.D801E

c.2403T>G

1 paper

NM_152296.5

p.D801D

c.2403T>C