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

8 papers

NM_003742.4

p.R948C

c.2842C>T

Surrounding Variants

1 paper

NM_003742.4

p.A951S

c.2851G>T

1 paper

NM_003742.4

p.V950delFs

c.2850delA

1 paper

NM_003742.4

p.G952R

c.2854G>C

2 papers

NM_003742.4

p.G952R

c.2854G>A

2 papers

NM_003742.4

p.G952E

c.2855G>A

1 paper

NM_003742.4

p.A951_G952delFs

c.2852_2855del4

1 paper

NM_003742.4

p.G954*

c.2860G>T

1 paper

NM_003742.4

p.E956K

c.2866G>A

2 papers

NM_003742.4

p.I939M

c.2817T>G

1 paper

NM_003742.4

p.R957K

c.2870G>A

1 paper

NM_003742.4

p.Q938_I939Splc

c.2815-1G>A

1 paper

NM_003742.4

p.Q938_I939Splc

c.2815-2A>G