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.V597G

c.1790T>G

Surrounding Variants

4 papers

NM_003742.4

p.V597L

c.1789G>T

3 papers

NM_003742.4

p.V597V

c.1791G>T

1 paper

NM_003742.4

p.V597fs

c.1789_1790fs

4 papers

NM_003742.4

p.V597L

c.1789G>C

3 papers

NM_003742.4

p.V597M

c.1789G>A

3 papers

NM_003742.4

p.Q598*

c.1792C>T

1 paper

NM_003742.4

p.E594V

c.1781A>T

8 papers

NM_003742.4

p.S593R

c.1779T>G

9 papers

NM_003742.4

p.S593R

c.1779T>A

8 papers

NM_003742.4

p.S593R

c.1777A>C

1 paper

NM_003742.4

p.S602N

c.1805G>A

1 paper

NM_003742.4

p.E592delFs

c.1774delC