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

3 papers

NM_003742.4

p.F540L

c.1620C>A

Surrounding Variants

3 papers

NM_003742.4

p.F540L

c.1620C>G

4 papers

NM_003742.4

p.I541F

c.1621A>T

1 paper

NM_003742.4

p.I541V

c.1621A>G

7 papers

NM_003742.4

p.I541L

c.1621A>C

5 papers

NM_003742.4

p.I541T

c.1622T>C

3 papers

NM_003742.4

p.F540L

c.1618T>C

1 paper

NM_003742.4

p.I541M

c.1623C>G

2 papers

NM_003742.4

p.N539D

c.1615A>G

1 paper

NM_003742.4

p.D543Y

c.1627G>T

2 papers

NM_003742.4

p.Y538C

c.1613A>G

2 papers

NM_003742.4

p.D543A

c.1628A>C

1 paper

NM_003742.4

p.P545S

c.1633C>T