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.L1204P

c.3611T>C

Surrounding Variants

1 paper

NM_003742.4

p.P1205fs

c.3613_3614fs

1 paper

NM_003742.4

p.P1205fs

c.3613_3614fs

1 paper

NM_003742.4

p.P1205delFs

c.3614delG

2 papers

NM_003742.4

p.M1202T

c.3605T>C

1 paper

NM_003742.4

p.E1206_K1207Splc

c.3618+2T>A

7 papers

NM_003742.4

p.H1198R

c.3593A>G

1 paper

NM_003742.4

p.L1197V

c.3589C>G

2 papers

NM_003742.4

p.Q1196*

c.3586C>T

5 papers

NM_003742.4

p.Q1194*

c.3580C>T

1 paper

NM_003742.4

p.A1192fs

c.3574_3575fs

1 paper

NM_003742.4

p.A1192delFs

c.3575delG

1 paper

NM_003742.4

p.A1190T

c.3568G>A