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.I468T

c.1403T>C

Surrounding Variants

1 paper

NM_003742.4

p.I468V

c.1402A>G

1 paper

NM_003742.4

p.Q469L

c.1406A>T

1 paper

NM_003742.4

p.Q469R

c.1406A>G

1 paper

NM_003742.4

p.Q469fs

c.1405_1406fs

1 paper

NM_003742.4

p.L467F

c.1399C>T

12 papers

NM_003742.4

p.R470*

c.1408C>T

1 paper

NM_003742.4

p.Q469delFs

c.1407delC

12 papers

NM_003742.4

p.R470Q

c.1409G>A

8 papers

NM_003742.4

p.Q466K

c.1396C>A

1 paper

NM_003742.4

p.L465fs

c.1393_1394fs

1 paper

NM_003742.4

p.L465R

c.1394T>G

9 papers

NM_003742.4

p.Y472C

c.1415A>G