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

55 papers

NM_001374385.1

p.I661T

c.1982T>C

Surrounding Variants

1 paper

NM_001374385.1

p.E660delFs

c.1978delC

1 paper

NM_001374385.1

p.E660fs

c.1978_1979fs

6 papers

NM_001374385.1

p.E665*

c.1993G>T

1 paper

NM_001374385.1

p.T667I

c.2000C>T

7 papers

NM_001374385.1

p.R652G

c.1954A>G

1 paper

NM_001374385.1

p.K672fs

c.2014_2015fs

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

1 paper

NM_001374385.1

p.E649K

c.1945G>A

1 paper

NM_001374385.1

p.A647delFs

c.1941delT

12 papers

NM_001374385.1

p.M674T

c.2021T>C