Varaico: Literature-Extracted Genetic Variants

ABCB4

633 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-cellul...

Pfam Domains

ABC_membraneaa 57–345UCSCABC transporter transmembrane region

ABC_tranaa 412–561UCSCABC transporter

ABC_membraneaa 711–985UCSCABC transporter transmembrane region

ABC_tranaa 1052–1210UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily B member 4

HGNC Previous Symbols

PGY3; MDR3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000443.4

p.I133insFs

c.399dupA

Surrounding Variants

3 papers

NM_000443.4

p.V135I

c.403G>A

6 papers

NM_000443.4

p.W138R

c.412T>C

6 papers

NM_000443.4

p.W138R

c.412T>A

1 paper

NM_000443.4

p.T139I

c.416C>T

1 paper

NM_000443.4

p.L128V

c.382C>G

6 papers

NM_000443.4

p.G126E

c.377G>A

1 paper

NM_000443.4

p.A142V

c.425C>T

1 paper

NM_000443.4

p.A142delFs

c.425delG

1 paper

NM_000443.4

p.G143D

c.428G>A

1 paper

NM_000443.4

p.G124C

c.370G>T

1 paper

NM_000443.4

p.G124R

c.370G>C

2 papers

NM_000443.4

p.G124S

c.370G>A