Varaico: Literature-Extracted Genetic Variants

ATP8B1

464 papers

RefSeq Summary

This gene encodes a member of the P-type cation transport ATPase family, which belongs to the subfamily of aminophospholipid-transporting ATPases. The aminophospholipid translocases transport phosphat...

Pfam Domains

PhoLip_ATPase_Naa 66–145UCSCPhospholipid-translocating ATPase N-terminal

E1-E2_ATPaseaa 172–280UCSCP-type ATPase actuator domain

Cation_ATPaseaa 523–713UCSCP-type ATPase, cytoplasmic domain N

PhoLip_ATPase_Caa 919–1173UCSCPhospholipid-translocating P-type ATPase C-terminal

Gene Aliases

HGNC Name

ATPase phospholipid transporting 8B1

HGNC Previous Symbols

FIC1; BRIC; PFIC1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001374385.1

p.Q545H

c.1635G>T

Surrounding Variants

1 paper

NM_001374385.1

p.Q545H

c.1635G>C

1 paper

NM_001374385.1

p.G544Splc

c.1631-2A>G

1 paper

NM_001374385.1

p.G544Splc

c.1631-10T>A

1 paper

NM_001374385.1

p.S552S

c.1656T>C

1 paper

NM_001374385.1

p.P553P

c.1659C>G

1 paper

NM_001374385.1

p.D554Y

c.1660G>T

34 papers

NM_001374385.1

p.D554N

c.1660G>A

1 paper

NM_001374385.1

p.D554G

c.1661A>G

2 papers

NM_001374385.1

p.D554A

c.1661A>C

1 paper

NM_001374385.1

p.L546_D554insFs

c.1638_1660dup23

1 paper

NM_001374385.1

p.D554E

c.1662T>G

1 paper

NM_001374385.1

p.D554E

c.1662T>A