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.T586I

c.1757C>T

Surrounding Variants

1 paper

NM_003742.4

p.T586_S587insFs

c.1758_1759insG

6 papers

NM_003742.4

p.S587*

c.1760C>G

6 papers

NM_003742.4

p.S587*

c.1760C>A

1 paper

NM_003742.4

p.K578_M584del7

c.1732_1751del21

1 paper

NM_003742.4

p.M584I

c.1752G>T

3 papers

NM_003742.4

p.A588P

c.1762G>C

1 paper

NM_003742.4

p.M584I

c.1752G>C

1 paper

NM_003742.4

p.M584I

c.1752G>A

8 papers

NM_003742.4

p.A588V

c.1763C>T

1 paper

NM_003742.4

p.M584V

c.1750A>G

5 papers

NM_003742.4

p.L589M

c.1765C>A

1 paper

NM_003742.4

p.L589P

c.1766T>C