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.A310T

c.928G>A

Surrounding Variants

2 papers

NM_000443.4

p.Y309*

c.927T>G

3 papers

NM_000443.4

p.Y309*

c.927T>A

1 paper

NM_000443.4

p.I308M

c.924A>G

1 paper

NM_000443.4

p.A313E

c.938C>A

1 paper

NM_000443.4

p.L314Q

c.941T>A

1 paper

NM_000443.4

p.A304G

c.911C>G

1 paper

NM_000443.4

p.A304D

c.911C>A

1 paper

NM_000443.4

p.A313_L314del0

c.937_942del6

1 paper

NM_000443.4

p.L306_F316del0

c.916_948del33

1 paper

NM_000443.4

p.W317*

c.950G>A

1 paper

NM_000443.4

p.G302D

c.905G>A

1 paper

NM_000443.4

p.G302C

c.904G>T