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

2 papers

NM_000443.4

p.A250T

c.748G>A

Surrounding Variants

6 papers

NM_000443.4

p.A250P

c.748G>C

1 paper

NM_000443.4

p.A252P

c.754G>C

1 paper

NM_000443.4

p.G253insFs

c.757_758insT

5 papers

NM_000443.4

p.A254T

c.760G>A

1 paper

NM_000443.4

p.V255M

c.763G>A

1 paper

NM_000443.4

p.V255V

c.765G>A

1 paper

NM_000443.4

p.A256V

c.767C>T

7 papers

NM_000443.4

p.D243A

c.728A>C

1 paper

NM_000443.4

p.S242R

c.726T>G

1 paper

NM_000443.4

p.S242R

c.726T>A

1 paper

NM_000443.4

p.E257D

c.771A>T

1 paper

NM_000443.4

p.S242R

c.724A>C