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

1 paper

NM_003742.4

p.A1028delins

c.3083_3084delinsAG

Surrounding Variants

35 papers

NM_003742.4

p.A1028A

c.3084A>G

1 paper

NM_003742.4

p.A1028delins

c.3083_3084delinsTG

3 papers

NM_003742.4

p.A1028V

c.3083C>T

3 papers

NM_003742.4

p.A1028E

c.3083C>A

4 papers

NM_003742.4

p.T1029K

c.3086C>A

1 paper

NM_003742.4

p.S1027R

c.3081T>G

1 paper

NM_003742.4

p.S1027R

c.3081T>A

1 paper

NM_003742.4

p.S1027R

c.3079A>C

1 paper

NM_003742.4

p.L1031P

c.3092T>C

5 papers

NM_003742.4

p.G1032R

c.3094G>C

5 papers

NM_003742.4

p.G1032R

c.3094G>A

2 papers

NM_003742.4

p.S1022S

c.3066T>C