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.T1140I

c.3419C>T

Surrounding Variants

1 paper

NM_138813.4

p.T1146T

c.3438C>G

2 papers

NM_138813.4

p.V1132I

c.3394G>A

1 paper

NM_138813.4

p.L1166R

c.3497T>G

2 papers

NM_138813.4

p.V1169I

c.3505G>A

1 paper

NM_138813.4

p.A1108T

c.3322G>A

1 paper

NM_138813.4

p.T1104M

c.3311C>T

1 paper

NM_138813.4

p.R1102R

c.3306C>T

1 paper

NM_138813.4

p.T1088I

c.3263C>T

1 paper

NM_138813.4

p.H1085Q

c.3255T>G

1 paper

NM_138813.4

p.H1085Q

c.3255T>A

1 paper

NM_138813.4

p.Y1065Y

c.3195C>T

1 paper

NM_138813.4

p.P1212S

c.3634C>T