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

2 papers

NM_001370597.1

p.N112T

c.335A>C

Surrounding Variants

1 paper

NM_001370597.1

p.F102L

c.306C>G

1 paper

NM_001370597.1

p.I122Splc

c.365+1G>A

1 paper

NM_001370597.1

p.I122Splc

c.365+1G>C

1 paper

NM_001370597.1

p.A146V

c.437C>T

1 paper

NM_001370597.1

p.D99A

c.296A>C

1 paper

NM_001370597.1

p.L152F

c.454C>T

1 paper

NM_001370597.1

p.T165I

c.494C>T

1 paper

NM_001370597.1

p.G170Splc

c.509+2T>A

1 paper

NM_001370597.1

p.Y60C

c.179A>G

1 paper

NM_001370597.1

p.A57V

c.170C>T

1 paper

NM_001370597.1

p.L49F

c.145C>T

1 paper

NM_001370597.1

p.L42F

c.124C>T