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

1 paper

NM_138813.4

p.M87T

c.260T>C

Surrounding Variants

1 paper

NM_138813.4

p.G83D

c.248G>A

1 paper

NM_138813.4

p.G91G

c.273C>T

1 paper

NM_138813.4

p.G45fs

c.133_134fs

2 papers

NM_138813.4

p.G45R

c.133G>C

2 papers

NM_138813.4

p.G45R

c.133G>A

1 paper

NM_138813.4

p.Y116F

c.347A>T

1 paper

NM_138813.4

p.N117I

c.350A>T

1 paper

NM_138813.4

p.T140M

c.419C>T

1 paper

NM_138813.4

p.E155Q

c.463G>C

1 paper

NM_138813.4

p.Q156H

c.468G>T

1 paper

NM_138813.4

p.Q156H

c.468G>C

1 paper

NM_138813.4

p.V160M

c.478G>A