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

10 papers

NM_000443.4

p.R545C

c.1633C>T

Surrounding Variants

5 papers

NM_000443.4

p.R545G

c.1633C>G

7 papers

NM_000443.4

p.R545H

c.1634G>A

1 paper

NM_000443.4

p.A544V

c.1631C>T

1 paper

NM_000443.4

p.A546T

c.1636G>A

17 papers

NM_000443.4

p.A546D

c.1637C>A

1 paper

NM_000443.4

p.I543S

c.1628T>G

1 paper

NM_000443.4

p.I543T

c.1628T>C

1 paper

NM_000443.4

p.A542S

c.1624G>T

1 paper

NM_000443.4

p.A542P

c.1624G>C

1 paper

NM_000443.4

p.A542T

c.1624G>A

1 paper

NM_000443.4

p.V548D

c.1643T>A

7 papers

NM_000443.4

p.R549C

c.1645C>T