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

31 papers

NM_003742.4

p.R1057*

c.3169C>T

Surrounding Variants

1 paper

NM_003742.4

p.R1057Q

c.3170G>A

5 papers

NM_003742.4

p.Q1058*

c.3172C>T

5 papers

NM_003742.4

p.L1055P

c.3164T>C

1 paper

NM_003742.4

p.Q1058fs

c.3172_3173fs

2 papers

NM_003742.4

p.Q1058delFs

c.3174delT

2 papers

NM_003742.4

p.L1054R

c.3161T>G

1 paper

NM_003742.4

p.Q1053fs

c.3157_3158fs

1 paper

NM_003742.4

p.F1052delFs

c.3156delA

1 paper

NM_003742.4

p.I1061fs

c.3181_3182fs

1 paper

NM_003742.4

p.F1051L

c.3153T>G

1 paper

NM_003742.4

p.F1051L

c.3153T>A

1 paper

NM_003742.4

p.I1061_S1062delFs

c.3181_3184del4