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.R595*

c.1783C>T

Surrounding Variants

3 papers

NM_000443.4

p.T593M

c.1778C>T

2 papers

NM_000443.4

p.T593K

c.1778C>A

1 paper

NM_000443.4

p.A597P

c.1789G>C

3 papers

NM_000443.4

p.T593A

c.1777A>G

2 papers

NM_000443.4

p.S592_T593insA

c.1774_1778ins3

6 papers

NM_000443.4

p.L591Q

c.1772T>A

54 papers

NM_000443.4

p.R590Q

c.1769G>A

2 papers

NM_000443.4

p.R590*

c.1768C>T

2 papers

NM_000443.4

p.I600F

c.1798A>T

3 papers

NM_000443.4

p.I600V

c.1798A>G

1 paper

NM_000443.4

p.A601S

c.1801G>T

2 papers

NM_000443.4

p.A601T

c.1801G>A