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.A257G

c.770C>G

Surrounding Variants

1 paper

NM_001374385.1

p.D254E

c.762T>A

1 paper

NM_001374385.1

p.L250H

c.749T>A

2 papers

NM_001374385.1

p.L243delFs

c.727delG

1 paper

NM_001374385.1

p.S242L

c.725C>T

1 paper

NM_001374385.1

p.F239Y

c.716T>A

1 paper

NM_001374385.1

p.L237F

c.711A>T

1 paper

NM_001374385.1

p.E234Q

c.700G>C

1 paper

NM_001374385.1

p.G233R

c.697G>C

1 paper

NM_001374385.1

p.G233R

c.697G>A

1 paper

NM_001374385.1

p.G261Splc

c.782-34G>A

1 paper

NM_001374385.1

p.G261Splc

c.782-12T>G

4 papers

NM_001374385.1

p.G261Splc

c.782-1G>A