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.I471I

c.1413C>A

Surrounding Variants

2 papers

NM_000443.4

p.I472T

c.1415T>C

1 paper

NM_000443.4

p.G473R

c.1417G>C

2 papers

NM_000443.4

p.R469K

c.1406G>A

1 paper

NM_000443.4

p.V474fs

c.1420_1421fs

3 papers

NM_000443.4

p.V474delFs

c.1420delC

3 papers

NM_000443.4

p.R469W

c.1405A>T

8 papers

NM_000443.4

p.V475A

c.1424T>C

1 paper

NM_000443.4

p.V475V

c.1425G>A

2 papers

NM_000443.4

p.Y467F

c.1400A>T

1 paper

NM_000443.4

p.Y467insFs

c.1399_1400ins10

1 paper

NM_000443.4

p.Y467D

c.1399T>G

3 papers

NM_000443.4

p.Q477K

c.1429C>A