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

39 papers

NM_003742.4

p.R1153C

c.3457C>T

Surrounding Variants

17 papers

NM_003742.4

p.R1153H

c.3458G>A

1 paper

NM_003742.4

p.L1152R

c.3455T>G

4 papers

NM_003742.4

p.S1154P

c.3460T>C

1 paper

NM_003742.4

p.R1153_S1154Fs

c.3459_3460delinsGFs

1 paper

NM_003742.4

p.S1154fs

c.3460_3461fs

1 paper

NM_003742.4

p.S1154fs

c.3460_3461fs

1 paper

NM_003742.4

p.Q1150*

c.3448C>T

1 paper

NM_003742.4

p.K1146delFs

c.3438delT

1 paper

NM_003742.4

p.V1159A

c.3476T>C

2 papers

NM_003742.4

p.K1145N

c.3435A>T

2 papers

NM_003742.4

p.K1145N

c.3435A>C

1 paper

NM_003742.4

p.Q1161*

c.3481C>T