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.C948*

c.2844C>A

Surrounding Variants

1 paper

NM_001374385.1

p.C948delFs

c.2844delG

1 paper

NM_001374385.1

p.R946T

c.2837G>C

1 paper

NM_001374385.1

p.R946K

c.2837G>A

1 paper

NM_001374385.1

p.I945T

c.2834T>C

14 papers

NM_001374385.1

p.R952*

c.2854C>T

18 papers

NM_001374385.1

p.R952Q

c.2855G>A

1 paper

NM_001374385.1

p.F955L

c.2863T>C

1 paper

NM_001374385.1

p.Y956fs

c.2866_2867fs

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.Y956delFs

c.2866delA

1 paper

NM_001374385.1

p.G940V

c.2819G>T