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.N298I

c.893A>T

Surrounding Variants

1 paper

NM_000443.4

p.A297T

c.889G>A

7 papers

NM_000443.4

p.M301T

c.902T>C

3 papers

NM_000443.4

p.M301K

c.902T>A

1 paper

NM_000443.4

p.S300_M301delFs

c.900_901delTG

1 paper

NM_000443.4

p.G302C

c.904G>T

1 paper

NM_000443.4

p.G302D

c.905G>A

1 paper

NM_000443.4

p.A294fs

c.880_881fs

2 papers

NM_000443.4

p.K293insFs

c.879dupA

2 papers

NM_000443.4

p.K293delFs

c.879delT

1 paper

NM_000443.4

p.K292_K293delFs

c.876_879del4

1 paper

NM_000443.4

p.A304G

c.911C>G

1 paper

NM_000443.4

p.A304D

c.911C>A