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.S488C

c.1463C>G

Surrounding Variants

4 papers

NM_003742.4

p.R487L

c.1460G>T

7 papers

NM_003742.4

p.R487P

c.1460G>C

27 papers

NM_003742.4

p.R487H

c.1460G>A

6 papers

NM_003742.4

p.R487C

c.1459C>T

8 papers

NM_003742.4

p.N490D

c.1468A>G

2 papers

NM_003742.4

p.I486T

c.1457T>C

1 paper

NM_003742.4

p.H484fs

c.1450_1451fs

1 paper

NM_003742.4

p.Q492*

c.1474C>T

8 papers

NM_003742.4

p.W493*

c.1478G>A

8 papers

NM_003742.4

p.W493*

c.1479G>A

129 papers

NM_003742.4

p.D482G

c.1445A>G

9 papers

NM_003742.4

p.V481E

c.1442T>A