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

4 papers

NM_001374385.1

p.G477Splc

c.1429+1G>A

Surrounding Variants

3 papers

NM_001374385.1

p.G477Splc

c.1429+2T>G

1 paper

NM_001374385.1

p.G473R

c.1417G>C

1 paper

NM_001374385.1

p.G473R

c.1417G>A

1 paper

NM_001374385.1

p.N472S

c.1415A>G

1 paper

NM_001374385.1

p.C470Y

c.1409G>A

2 papers

NM_001374385.1

p.C470G

c.1408T>G

1 paper

NM_001374385.1

p.C469G

c.1405T>G

1 paper

NM_001374385.1

p.T465T

c.1395C>G

1 paper

NM_001374385.1

p.G477Splc

c.1429+49G>A

2 papers

NM_001374385.1

p.Q461_N462insT

c.1381_1385ins3

2 papers

NM_001374385.1

p.L459F

c.1375C>T

1 paper

NM_001374385.1

p.T458A

c.1372A>G