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.T259insFs

c.776_777ins5

Surrounding Variants

1 paper

NM_138813.4

p.T259fs

c.775_776fs

1 paper

NM_138813.4

p.L264P

c.791T>C

1 paper

NM_138813.4

p.D246N

c.736G>A

1 paper

NM_138813.4

p.K245K

c.735G>A

1 paper

NM_138813.4

p.R244R

c.732C>G

1 paper

NM_138813.4

p.D234G

c.701A>G

1 paper

NM_138813.4

p.Q301*

c.901C>T

1 paper

NM_138813.4

p.S226Splc

c.677+132C>T

2 papers

NM_138813.4

p.A213T

c.637G>A

1 paper

NM_138813.4

p.G206insFs

c.617_618ins5

1 paper

NM_138813.4

p.P188R

c.563C>G

1 paper

NM_138813.4

p.Q172_S173Splc

c.517-70C>G