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.G261Splc

c.782-12T>G

Surrounding Variants

4 papers

NM_001374385.1

p.G261Splc

c.782-1G>A

1 paper

NM_001374385.1

p.G261Splc

c.782-34G>A

2 papers

NM_001374385.1

p.C265R

c.793T>C

2 papers

NM_001374385.1

p.R271*

c.811A>T

6 papers

NM_001374385.1

p.R271R

c.811A>C

2 papers

NM_001374385.1

p.D273G

c.818A>G

1 paper

NM_001374385.1

p.D273delFs

c.817delC

1 paper

NM_001374385.1

p.G277E

c.830G>A

1 paper

NM_001374385.1

p.W281R

c.841T>C

1 paper

NM_001374385.1

p.W281R

c.841T>A

1 paper

NM_001374385.1

p.P287L

c.860C>T

11 papers

NM_001374385.1

p.L288S

c.863T>C