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

12 papers

NM_001374385.1

p.R930*

c.2788C>T

Surrounding Variants

1 paper

NM_001374385.1

p.Q928_F929insFs

c.2783_2787dup5

4 papers

NM_001374385.1

p.R930Q

c.2789G>A

1 paper

NM_001374385.1

p.F929_R930insFs

c.2787_2788insGA

1 paper

NM_001374385.1

p.Q928*

c.2782C>T

1 paper

NM_001374385.1

p.A927V

c.2780C>T

1 paper

NM_001374385.1

p.R934G

c.2800A>G

4 papers

NM_001374385.1

p.Y924C

c.2771A>G

1 paper

NM_001374385.1

p.S921S

c.2763G>A

1 paper

NM_001374385.1

p.G940V

c.2819G>T

4 papers

NM_001374385.1

p.R941*

c.2821C>T

1 paper

NM_001374385.1

p.R941G

c.2821C>G

1 paper

NM_001374385.1

p.E914_G915Fs

c.2742_2743delinsTFs