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.Q730_L731Splc

c.2190+24C>T

Surrounding Variants

1 paper

NM_138813.4

p.Q730_L731Splc

c.2190+12G>A

1 paper

NM_138813.4

p.R724Q

c.2171G>A

1 paper

NM_138813.4

p.R724W

c.2170C>T

1 paper

NM_138813.4

p.Q715*

c.2143C>T

1 paper

NM_138813.4

p.R713H

c.2138G>A

1 paper

NM_138813.4

p.E690E

c.2070G>A

1 paper

NM_138813.4

p.A686A

c.2058C>T

1 paper

NM_138813.4

p.F775fs

c.2323_2324fs

1 paper

NM_138813.4

p.A776_C777ins5

c.2326_2330ins15

1 paper

NM_138813.4

p.C777*

c.2331C>A

1 paper

NM_138813.4

p.L779V

c.2335C>G

1 paper

NM_138813.4

p.E791K

c.2371G>A