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.V586_I587insFs

c.1758_1759insG

Surrounding Variants

1 paper

NM_000443.4

p.V586E

c.1757T>A

3 papers

NM_000443.4

p.V586L

c.1756G>T

2 papers

NM_000443.4

p.V586L

c.1756G>C

4 papers

NM_000443.4

p.H589Y

c.1765C>T

2 papers

NM_000443.4

p.R590*

c.1768C>T

54 papers

NM_000443.4

p.R590Q

c.1769G>A

6 papers

NM_000443.4

p.L591Q

c.1772T>A

7 papers

NM_000443.4

p.R582Q

c.1745G>A

2 papers

NM_000443.4

p.S592_T593insA

c.1774_1778ins3

4 papers

NM_000443.4

p.R582W

c.1744C>T

3 papers

NM_000443.4

p.T593A

c.1777A>G

3 papers

NM_000443.4

p.T593M

c.1778C>T