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.E684*

c.2050G>T

Surrounding Variants

1 paper

NM_000443.4

p.E684V

c.2051A>T

1 paper

NM_000443.4

p.D686N

c.2056G>A

1 paper

NM_000443.4

p.D686G

c.2057A>G

1 paper

NM_000443.4

p.S680delFs

c.2038delT

2 papers

NM_000443.4

p.K679R

c.2036A>G

3 papers

NM_000443.4

p.L688_E689Splc

c.2064+3A>T

1 paper

NM_000443.4

p.M676I

c.2028G>T

1 paper

NM_000443.4

p.M676I

c.2028G>C

1 paper

NM_000443.4

p.M676I

c.2028G>A

1 paper

NM_000443.4

p.M676L

c.2026A>T

1 paper

NM_000443.4

p.M676L

c.2026A>C

1 paper

NM_000443.4

p.S674L

c.2021C>T