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.G536A

c.1607G>C

Surrounding Variants

10 papers

NM_000443.4

p.G536R

c.1606G>C

11 papers

NM_000443.4

p.G536R

c.1606G>A

2 papers

NM_000443.4

p.G535A

c.1604G>C

16 papers

NM_000443.4

p.G535D

c.1604G>A

1 paper

NM_000443.4

p.K538R

c.1613A>G

34 papers

NM_000443.4

p.I541F

c.1621A>T

1 paper

NM_000443.4

p.A531V

c.1592C>T

1 paper

NM_000443.4

p.A531fs

c.1591_1592fs

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.R529_G530delFs

c.1587_1588delCT