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.K672fs

c.2014_2015fs

Surrounding Variants

2 papers

NM_001374385.1

p.K672fs

c.2014_2015fs

2 papers

NM_001374385.1

p.K671_K672delFs

c.2013_2014delTT

2 papers

NM_001374385.1

p.K672delFs

c.2016delC

12 papers

NM_001374385.1

p.M674T

c.2021T>C

1 paper

NM_001374385.1

p.K672_F673del2

c.2014_2018del6

2 papers

NM_001374385.1

p.A675insFs

c.2025dupT

1 paper

NM_001374385.1

p.A676fs

c.2026_2027fs

1 paper

NM_001374385.1

p.T667I

c.2000C>T

1 paper

NM_001374385.1

p.A676fs

c.2026_2027fs

2 papers

NM_001374385.1

p.S677G

c.2029A>G

1 paper

NM_001374385.1

p.S677T

c.2030G>C

6 papers

NM_001374385.1

p.E665*

c.1993G>T