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

65 papers

NM_001374385.1

p.G308V

c.923G>T

Surrounding Variants

2 papers

NM_001374385.1

p.G308D

c.923G>A

5 papers

NM_001374385.1

p.G308S

c.922G>A

2 papers

NM_001374385.1

p.H307L

c.920A>T

1 paper

NM_001374385.1

p.C306Y

c.917G>A

5 papers

NM_001374385.1

p.C306R

c.916T>C

1 paper

NM_001374385.1

p.V310insFs

c.929dupT

1 paper

NM_001374385.1

p.I311fs

c.931_932fs

7 papers

NM_001374385.1

p.F305I

c.913T>A

1 paper

NM_001374385.1

p.F312C

c.935T>G

1 paper

NM_001374385.1

p.A313V

c.938C>T

1 paper

NM_001374385.1

p.A313E

c.938C>A

2 papers

NM_001374385.1

p.T303A

c.907A>G