Varaico: Literature-Extracted Genetic Variants

ATP8B3

89 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport ...

Pfam Domains

PhoLip_ATPase_Naa 109–186UCSCPhospholipid-translocating ATPase N-terminal

Cation_ATPaseaa 560–744UCSCP-type ATPase, cytoplasmic domain N

PhoLip_ATPase_Caa 965–1216UCSCPhospholipid-translocating P-type ATPase C-terminal

Gene Aliases

HGNC Name

ATPase phospholipid transporting 8B3

HGNC Alias Symbol

ATPIK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_138813.4

p.K828K

c.2484A>G

Surrounding Variants

1 paper

NM_138813.4

p.R834G

c.2500C>G

1 paper

NM_138813.4

p.A839fs

c.2515_2516fs

2 papers

NM_138813.4

p.R871G

c.2611C>G

1 paper

NM_138813.4

p.Q883Q

c.2649G>A

1 paper

NM_138813.4

p.V893L

c.2677G>T

1 paper

NM_138813.4

p.R897C

c.2689C>T

1 paper

NM_138813.4

p.A903S

c.2707G>T

1 paper

NM_138813.4

p.S803G

c.2407A>G

1 paper

NM_138813.4

p.L925Q

c.2774T>A

1 paper

NM_138813.4

p.A936V

c.2807C>T

1 paper

NM_138813.4

p.V954M

c.2860G>A

1 paper

NM_138813.4

p.F970Y

c.2909T>A