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

64 papers

NM_000443.4

p.S320F

c.959C>T

Surrounding Variants

2 papers

NM_000443.4

p.G319G

c.957A>G

3 papers

NM_000443.4

p.G319V

c.956G>T

3 papers

NM_000443.4

p.G319E

c.956G>A

4 papers

NM_000443.4

p.G319R

c.955G>C

3 papers

NM_000443.4

p.G319R

c.955G>A

3 papers

NM_000443.4

p.L322P

c.965T>C

1 paper

NM_000443.4

p.W317*

c.950G>A

1 paper

NM_000443.4

p.L306_F316del0

c.916_948del33

1 paper

NM_000443.4

p.A313_L314del0

c.937_942del6

1 paper

NM_000443.4

p.L314Q

c.941T>A

1 paper

NM_000443.4

p.A313E

c.938C>A

1 paper

NM_000443.4

p.E327V

c.980A>T