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

1 paper

NM_003742.4

p.E300D

c.900G>C

Surrounding Variants

1 paper

NM_003742.4

p.E300D

c.900G>T

1 paper

NM_003742.4

p.E300K

c.898G>A

2 papers

NM_003742.4

p.R299I

c.896G>T

5 papers

NM_003742.4

p.R299K

c.896G>A

1 paper

NM_003742.4

p.K298I

c.893A>T

5 papers

NM_003742.4

p.R303G

c.907A>G

3 papers

NM_003742.4

p.R303K

c.908G>A

3 papers

NM_003742.4

p.R303Splc

c.908+1G>T

4 papers

NM_003742.4

p.R303Splc

c.908+1G>C

12 papers

NM_003742.4

p.R303Splc

c.908+1G>A

1 paper

NM_003742.4

p.E297E

c.891G>A

5 papers

NM_003742.4

p.R303delFs

c.908delC