Varaico: Literature-Extracted Genetic Variants

ABCB11

787 papers

RefSeq Summary

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellula...

Pfam Domains

ABC_membraneaa 62–371UCSCABC transporter transmembrane region

ABC_tranaa 438–587UCSCABC transporter

ABC_membraneaa 755–1029UCSCABC transporter transmembrane region

ABC_tranaa 1096–1247UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily B member 11

HGNC Previous Symbols

BSEP; PFIC2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003742.4

p.E449K

c.1345G>A

Surrounding Variants

1 paper

NM_003742.4

p.G448R

c.1342G>C

1 paper

NM_003742.4

p.T451K

c.1352C>A

4 papers

NM_003742.4

p.V444G

c.1331T>G

168 papers

NM_003742.4

p.V444A

c.1331T>C

2 papers

NM_003742.4

p.V444D

c.1331T>A

2 papers

NM_003742.4

p.V454delFs

c.1360delC

1 paper

NM_003742.4

p.G455V

c.1364G>T

1 paper

NM_003742.4

p.G455A

c.1364G>C

4 papers

NM_003742.4

p.G455E

c.1364G>A

2 papers

NM_003742.4

p.N442Y

c.1324A>T

2 papers

NM_003742.4

p.P456L

c.1367C>T

1 paper

NM_003742.4

p.P456H

c.1367C>A