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

28 papers

NM_003742.4

p.N591S

c.1772A>G

Surrounding Variants

1 paper

NM_003742.4

p.E592*

c.1774G>T

2 papers

NM_003742.4

p.E592_S593insA

c.1774_1778ins3

3 papers

NM_003742.4

p.E592Q

c.1774G>C

2 papers

NM_003742.4

p.D590E

c.1770C>G

2 papers

NM_003742.4

p.D590E

c.1770C>A

2 papers

NM_003742.4

p.D590A

c.1769A>C

1 paper

NM_003742.4

p.E592delFs

c.1774delC

8 papers

NM_003742.4

p.S593R

c.1777A>C

1 paper

NM_003742.4

p.L589P

c.1766T>C

8 papers

NM_003742.4

p.S593R

c.1779T>G

9 papers

NM_003742.4

p.S593R

c.1779T>A

5 papers

NM_003742.4

p.L589M

c.1765C>A