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

8 papers

NM_000443.4

p.D459H

c.1375G>C

Surrounding Variants

1 paper

NM_000443.4

p.Q458Q

c.1374G>A

5 papers

NM_000443.4

p.D459G

c.1376A>G

1 paper

NM_000443.4

p.Q458R

c.1373A>G

2 papers

NM_000443.4

p.Q458P

c.1373A>C

1 paper

NM_000443.4

p.Q458fs

c.1372_1373fs

2 papers

NM_000443.4

p.G457delFs

c.1371delC

4 papers

NM_000443.4

p.I460F

c.1378A>T

2 papers

NM_000443.4

p.I460V

c.1378A>G

1 paper

NM_000443.4

p.R461G

c.1381A>G

1 paper

NM_000443.4

p.D456H

c.1366G>C

1 paper

NM_000443.4

p.I455F

c.1363A>T

1 paper

NM_000443.4

p.V465G

c.1394T>G