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.H535N

c.1603C>A

Surrounding Variants

1 paper

NM_001374385.1

p.C534*

c.1602C>A

7 papers

NM_001374385.1

p.H535L

c.1604A>T

14 papers

NM_001374385.1

p.F529del1

c.1585_1586delGAA

1 paper

NM_001374385.1

p.F528S

c.1583T>C

1 paper

NM_001374385.1

p.Q526*

c.1576C>T

2 papers

NM_001374385.1

p.R525*

c.1573C>T

1 paper

NM_001374385.1

p.E521G

c.1562A>G

1 paper

NM_001374385.1

p.K520*

c.1558A>T

1 paper

NM_001374385.1

p.Q517*

c.1549C>T

1 paper

NM_001374385.1

p.I516N

c.1547T>A

1 paper

NM_001374385.1

p.I516V

c.1546A>G

1 paper

NM_001374385.1

p.I513T

c.1538T>C