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

13 papers

NM_001374385.1

p.I577V

c.1729A>G

Surrounding Variants

2 papers

NM_001374385.1

p.S580N

c.1739G>A

2 papers

NM_001374385.1

p.E581K

c.1741G>A

1 paper

NM_001374385.1

p.A571_R572insFs

c.1713_1714ins4

1 paper

NM_001374385.1

p.L570_A571insFs

c.1710_1711ins4

1 paper

NM_001374385.1

p.A571T

c.1711G>A

1 paper

NM_001374385.1

p.A571fs

c.1711_1712fs

1 paper

NM_001374385.1

p.L570L

c.1710C>T

2 papers

NM_001374385.1

p.L570insFs

c.1708dupC

2 papers

NM_001374385.1

p.E585*

c.1753G>T

1 paper

NM_001374385.1

p.T587S

c.1760C>G

1 paper

NM_001374385.1

p.G566D

c.1697G>A

3 papers

NM_001374385.1

p.V559_R563del0

c.1675_1689del15