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

1–12 of 1267 variants

168 papers

NM_003742.4

p.V444A

c.1331T>C

140 papers

NM_003742.4

p.E297G

c.890A>G

129 papers

NM_003742.4

p.D482G

c.1445A>G

49 papers

NM_003742.4

p.G982R

c.2944G>A

44 papers

NM_003742.4

p.G982R

c.2944G>C

39 papers

NM_003742.4

p.R1153C

c.3457C>T

35 papers

NM_003742.4

p.A1028A

c.3084A>G

31 papers

NM_003742.4

p.R1057*

c.3169C>T

30 papers

NM_003742.4

p.R575*

c.1723C>T

28 papers

NM_003742.4

p.N591S

c.1772A>G

28 papers

NM_003742.4

p.M677V

c.2029A>G

27 papers

NM_003742.4

p.R487H

c.1460G>A