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.F959V

c.2875T>G

Surrounding Variants

2 papers

NM_003742.4

p.F959C

c.2876T>G

1 paper

NM_003742.4

p.R958_F959insFs

c.2874_2875insCG

1 paper

NM_003742.4

p.R958fs

c.2872_2873fs

1 paper

NM_003742.4

p.R958insFs

c.2873_2874insCG

1 paper

NM_003742.4

p.R958P

c.2873G>C

3 papers

NM_003742.4

p.R958Q

c.2873G>A

1 paper

NM_003742.4

p.F959fs

c.2875_2876fs

1 paper

NM_003742.4

p.R957K

c.2870G>A

1 paper

NM_003742.4

p.E961G

c.2882A>G

1 paper

NM_003742.4

p.E956K

c.2866G>A

1 paper

NM_003742.4

p.G954*

c.2860G>T

2 papers

NM_003742.4

p.T965S

c.2893A>T