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

3 papers

NM_003742.4

p.T267M

c.800C>T

Surrounding Variants

5 papers

NM_003742.4

p.Y269Y

c.807T>C

1 paper

NM_003742.4

p.K265*

c.793A>T

1 paper

NM_003742.4

p.E270G

c.809A>G

1 paper

NM_003742.4

p.S262R

c.786T>G

1 paper

NM_003742.4

p.S262R

c.786T>A

1 paper

NM_003742.4

p.S262R

c.784A>C

1 paper

NM_003742.4

p.A273delFs

c.817delC

1 paper

NM_003742.4

p.A273fs

c.817_818fs

2 papers

NM_003742.4

p.A277E

c.830C>A

1 paper

NM_003742.4

p.V280A

c.839T>C

1 paper

NM_003742.4

p.A281insFs

c.842_843ins4

6 papers

NM_003742.4

p.E283D

c.849A>T