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.T1180A

c.3538A>G

Surrounding Variants

1 paper

NM_003742.4

p.T1180I

c.3539C>T

2 papers

NM_003742.4

p.I1183T

c.3548T>C

1 paper

NM_003742.4

p.Y1176C

c.3527A>G

1 paper

NM_003742.4

p.Y1176S

c.3527A>C

1 paper

NM_003742.4

p.K1175T

c.3524A>C

1 paper

NM_003742.4

p.I1174N

c.3521T>A

1 paper

NM_003742.4

p.E1186Q

c.3556G>C

12 papers

NM_003742.4

p.E1186K

c.3556G>A

6 papers

NM_003742.4

p.N1173D

c.3517A>G

1 paper

NM_003742.4

p.D1172G

c.3515A>G

1 paper

NM_003742.4

p.M1171fs

c.3511_3512fs

2 papers

NM_003742.4

p.I1170T

c.3509T>C