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

13 papers

NM_000443.4

p.R159*

c.475C>T

Surrounding Variants

1 paper

NM_000443.4

p.R159R

c.475C>A

3 papers

NM_000443.4

p.L158Q

c.473T>A

2 papers

NM_000443.4

p.E161K

c.481G>A

1 paper

NM_000443.4

p.I157F

c.469A>T

1 paper

NM_000443.4

p.E161G

c.482A>G

1 paper

NM_000443.4

p.A156T

c.466G>A

1 paper

NM_000443.4

p.H155fs

c.463_464fs

3 papers

NM_000443.4

p.I162K

c.485T>A

1 paper

NM_000443.4

p.G163E

c.488G>A

1 paper

NM_000443.4

p.F154S

c.461T>C

1 paper

NM_000443.4

p.F154Y

c.461T>A

5 papers

NM_000443.4

p.W164G

c.490T>G