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.E554K

c.1660G>A

Surrounding Variants

1 paper

NM_003742.4

p.E554A

c.1661A>C

1 paper

NM_003742.4

p.G555*

c.1663G>T

1 paper

NM_003742.4

p.G555A

c.1664G>C

3 papers

NM_003742.4

p.G556R

c.1666G>C

3 papers

NM_003742.4

p.G556R

c.1666G>A

1 paper

NM_003742.4

p.G553_G557del0

c.1658_1669del12

7 papers

NM_003742.4

p.Q558H

c.1674G>T

8 papers

NM_003742.4

p.Q558H

c.1674G>C

3 papers

NM_003742.4

p.D549V

c.1646A>T

2 papers

NM_003742.4

p.M559T

c.1676T>C

3 papers

NM_003742.4

p.F548Y

c.1643T>A

1 paper

NM_003742.4

p.Q547Q

c.1641A>G