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

1 paper

NM_001370597.1

p.L643L

c.1929G>A

Surrounding Variants

1 paper

NM_001370597.1

p.L596delFs

c.1787_1788delTG

1 paper

NM_001370597.1

p.G730R

c.2188G>C

1 paper

NM_001370597.1

p.G759S

c.2275G>A

1 paper

NM_001370597.1

p.R549Q

c.1646G>A

1 paper

NM_001370597.1

p.N817S

c.2450A>G

1 paper

NM_001370597.1

p.K482K

c.1446G>A

1 paper

NM_001370597.1

p.K445_L447delFs

c.1333_1340del8

1 paper

NM_001370597.1

p.G961G

c.2883C>T

1 paper

NM_001370597.1

p.F1044F

c.3132C>T

1 paper

NM_001370597.1

p.V386V

c.1158G>A

1 paper

NM_001370597.1

p.T376T

c.1128C>G

1 paper

NM_001370597.1

p.T370T

c.1110G>T