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.F84L

c.252C>A

Surrounding Variants

2 papers

NM_001374385.1

p.T82T

c.246A>G

2 papers

NM_001374385.1

p.N81S

c.242A>G

1 paper

NM_001374385.1

p.F79delFs

c.237delA

1 paper

NM_001374385.1

p.F79fs

c.235_236fs

12 papers

NM_001374385.1

p.H78Q

c.234C>G

12 papers

NM_001374385.1

p.H78Q

c.234C>A

1 paper

NM_001374385.1

p.P77A

c.229C>G

1 paper

NM_001374385.1

p.Y92Y

c.276T>C

1 paper

NM_001374385.1

p.A93V

c.278C>T

5 papers

NM_001374385.1

p.A93A

c.279G>A

1 paper

NM_001374385.1

p.D70Y

c.208G>T

17 papers

NM_001374385.1

p.D70N

c.208G>A