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.P433L

c.1298C>T

Surrounding Variants

1 paper

NM_001374385.1

p.A434S

c.1300G>T

10 papers

NM_001374385.1

p.E429A

c.1286A>C

3 papers

NM_001374385.1

p.D422H

c.1264G>C

1 paper

NM_001374385.1

p.L445F

c.1333C>T

11 papers

NM_001374385.1

p.G446R

c.1336G>C

11 papers

NM_001374385.1

p.G446R

c.1336G>A

1 paper

NM_001374385.1

p.Y450_I451insFs

c.1350_1351insT

1 paper

NM_001374385.1

p.Q415R

c.1244A>G

2 papers

NM_001374385.1

p.Q415*

c.1243C>T

1 paper

NM_001374385.1

p.I451fs

c.1351_1352fs

5 papers

NM_001374385.1

p.S453Y

c.1358C>A

2 papers

NM_001374385.1

p.D454N

c.1360G>A