Varaico: Literature-Extracted Genetic Variants

ATP8B2

53 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 35–101UCSCPhospholipid-translocating ATPase N-terminal

Cation_ATPaseaa 482–674UCSCP-type ATPase, cytoplasmic domain N

PhoLip_ATPase_Caa 859–1113UCSCPhospholipid-translocating P-type ATPase C-terminal

Gene Aliases

HGNC Name

ATPase phospholipid transporting 8B2

HGNC Alias Symbols

ATPID; KIAA1137

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_001370597.1

p.E301K

c.901G>A

Surrounding Variants

1 paper

NM_001370597.1

p.N274N

c.822T>C

1 paper

NM_001370597.1

p.D270E

c.810T>A

1 paper

NM_001370597.1

p.R232Q

c.695G>A

1 paper

NM_001370597.1

p.K221T

c.662A>C

1 paper

NM_001370597.1

p.W217*

c.651G>A

1 paper

NM_001370597.1

p.W217*

c.650G>A

1 paper

NM_001370597.1

p.L208P

c.623T>C

1 paper

NM_001370597.1

p.T370T

c.1110G>T

1 paper

NM_001370597.1

p.T376T

c.1128C>G

1 paper

NM_001370597.1

p.V386V

c.1158G>A

1 paper

NM_001370597.1

p.E171Q

c.511G>C

1 paper

NM_001370597.1

p.G170Splc

c.510-1G>C