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

1–12 of 125 variants

3 papers

NM_138813.4

p.R649*

c.1945C>T

3 papers

NM_138813.4

p.G1019D

c.3056G>A

2 papers

NM_138813.4

p.G45R

c.133G>C

2 papers

NM_138813.4

p.G45R

c.133G>A

2 papers

NM_138813.4

p.A213T

c.637G>A

2 papers

NM_138813.4

p.K828K

c.2484A>G

2 papers

NM_138813.4

p.R871G

c.2611C>G

2 papers

NM_138813.4

p.V1132I

c.3394G>A

2 papers

NM_138813.4

p.V1169I

c.3505G>A

1 paper

NM_138813.4

p.G45fs

c.133_134fs

1 paper

NM_138813.4

p.G83D

c.248G>A

1 paper

NM_138813.4

p.M87T

c.260T>C