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.F971del1

c.2911_2912delGAA

Surrounding Variants

2 papers

NM_003742.4

p.F971L

c.2913C>G

2 papers

NM_003742.4

p.F971L

c.2913C>A

2 papers

NM_003742.4

p.F971Y

c.2912T>A

2 papers

NM_003742.4

p.F971L

c.2911T>C

1 paper

NM_003742.4

p.K969del1

c.2905_2906delCTT

5 papers

NM_003742.4

p.Q976*

c.2926C>T

3 papers

NM_003742.4

p.Q976R

c.2927A>G

2 papers

NM_003742.4

p.K977delFs

c.2931delT

1 paper

NM_003742.4

p.A978fs

c.2932_2933fs

2 papers

NM_003742.4

p.T965S

c.2894C>G

1 paper

NM_003742.4

p.A978fs

c.2932_2933fs

2 papers

NM_003742.4

p.T965S

c.2893A>T