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.Y123S

c.368A>C

Surrounding Variants

1 paper

NM_001374385.1

p.A120S

c.358G>T

3 papers

NM_001374385.1

p.L127V

c.379C>G

13 papers

NM_001374385.1

p.L127P

c.380T>C

1 paper

NM_001374385.1

p.L128L

c.384T>C

1 paper

NM_001374385.1

p.K117N

c.351G>T

1 paper

NM_001374385.1

p.K117N

c.351G>C

1 paper

NM_001374385.1

p.E114Q

c.340G>C

2 papers

NM_001374385.1

p.F107L

c.319T>C

1 paper

NM_001374385.1

p.T106T

c.318C>T

1 paper

NM_001374385.1

p.T106S

c.316A>T

1 paper

NM_001374385.1

p.T99T

c.297A>T

3 papers

NM_001374385.1

p.A93_N94Splc

c.280-2A>G