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

17 papers

NM_001374385.1

p.T456M

c.1367C>T

Surrounding Variants

1 paper

NM_001374385.1

p.T456R

c.1367C>G

3 papers

NM_001374385.1

p.T456K

c.1367C>A

2 papers

NM_001374385.1

p.K455N

c.1365G>T

2 papers

NM_001374385.1

p.K455N

c.1365G>C

1 paper

NM_001374385.1

p.K455K

c.1365G>A

1 paper

NM_001374385.1

p.G457E

c.1370G>A

1 paper

NM_001374385.1

p.G457G

c.1371G>A

1 paper

NM_001374385.1

p.T458A

c.1372A>G

2 papers

NM_001374385.1

p.G457delFs

c.1371delC

9 papers

NM_001374385.1

p.D454G

c.1361A>G

2 papers

NM_001374385.1

p.D454A

c.1361A>C

2 papers

NM_001374385.1

p.D454N

c.1360G>A