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.P584Q

c.1751C>A

Surrounding Variants

1 paper

NM_138813.4

p.R566C

c.1696C>T

1 paper

NM_138813.4

p.L552L

c.1656C>G

1 paper

NM_138813.4

p.A547V

c.1640C>T

1 paper

NM_138813.4

p.K528_E529Splc

c.1585-41G>A

1 paper

NM_138813.4

p.Y589H

c.1765T>C

1 paper

NM_138813.4

p.T617_V618ins5

c.1849_1853ins15

1 paper

NM_138813.4

p.V618I

c.1852G>A

1 paper

NM_138813.4

p.E625fs

c.1873_1874fs

3 papers

NM_138813.4

p.R649*

c.1945C>T

1 paper

NM_138813.4

p.C656Y

c.1967G>A

1 paper

NM_138813.4

p.E668K

c.2002G>A

1 paper

NM_138813.4

p.G674W

c.2020G>T