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.L1006F

c.3018A>T

Surrounding Variants

2 papers

NM_003742.4

p.L1006F

c.3018A>C

2 papers

NM_003742.4

p.G1004V

c.3011G>T

16 papers

NM_003742.4

p.G1004D

c.3011G>A

2 papers

NM_003742.4

p.N1009H

c.3025A>C

3 papers

NM_003742.4

p.G1003E

c.3008G>A

1 paper

NM_003742.4

p.G1003*

c.3007G>T

2 papers

NM_003742.4

p.G1003R

c.3007G>C

2 papers

NM_003742.4

p.G1003R

c.3007G>A

3 papers

NM_003742.4

p.R1001R

c.3003A>G

1 paper

NM_003742.4

p.R1001K

c.3002G>A

2 papers

NM_003742.4

p.S999P

c.2995T>C

1 paper

NM_003742.4

p.Y1016C

c.3047A>G