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

2 papers

NM_001374385.1

p.P23L

c.68C>T

Surrounding Variants

1 paper

NM_001374385.1

p.P23H

c.68C>A

1 paper

NM_001374385.1

p.S25C

c.73A>T

1 paper

NM_001374385.1

p.D26H

c.76G>C

1 paper

NM_001374385.1

p.E20*

c.58G>T

1 paper

NM_001374385.1

p.D14Y

c.40G>T

1 paper

NM_001374385.1

p.E13K

c.37G>A

1 paper

NM_001374385.1

p.D34delFs

c.100delC

1 paper

NM_001374385.1

p.D12N

c.34G>A

2 papers

NM_001374385.1

p.T9M

c.26C>T

1 paper

NM_001374385.1

p.T9R

c.26C>G

1 paper

NM_001374385.1

p.S38S

c.114T>C

1 paper

NM_001374385.1

p.S7L

c.20C>T