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.F996S

c.2987T>C

Surrounding Variants

1 paper

NM_138813.4

p.L997fs

c.2989_2990fs

1 paper

NM_138813.4

p.L997P

c.2990T>C

1 paper

NM_138813.4

p.L997delFs

c.2989delG

1 paper

NM_138813.4

p.Y999C

c.2996A>G

1 paper

NM_138813.4

p.I993V

c.2977A>G

1 paper

NM_138813.4

p.V991M

c.2971G>A

1 paper

NM_138813.4

p.W1013S

c.3038G>C

1 paper

NM_138813.4

p.C976S

c.2927G>C

1 paper

NM_138813.4

p.G973A

c.2918G>C

3 papers

NM_138813.4

p.G1019D

c.3056G>A

1 paper

NM_138813.4

p.F970Y

c.2909T>A

1 paper

NM_138813.4

p.V954M

c.2860G>A