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.R289G

c.865A>G

Surrounding Variants

1 paper

NM_003742.4

p.M288T

c.863T>C

1 paper

NM_003742.4

p.S287L

c.860C>T

4 papers

NM_003742.4

p.V291A

c.872T>C

1 paper

NM_003742.4

p.S286L

c.857C>T

1 paper

NM_003742.4

p.A293G

c.878C>G

16 papers

NM_003742.4

p.V284A

c.851T>C

3 papers

NM_003742.4

p.V284D

c.851T>A

14 papers

NM_003742.4

p.V284L

c.850G>C

6 papers

NM_003742.4

p.E283D

c.849A>T

6 papers

NM_003742.4

p.E283D

c.849A>C

2 papers

NM_003742.4

p.G295C

c.883G>T

2 papers

NM_003742.4

p.G295R

c.883G>C