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.E570K

c.1708G>A

Surrounding Variants

3 papers

NM_000443.4

p.V571fs

c.1711_1712fs

19 papers

NM_000443.4

p.V571delFs

c.1712delA

2 papers

NM_000443.4

p.Q572*

c.1714C>T

1 paper

NM_000443.4

p.A573V

c.1718C>T

1 paper

NM_000443.4

p.T565R

c.1694C>G

2 papers

NM_000443.4

p.L575L

c.1723C>T

1 paper

NM_000443.4

p.D564fs

c.1690_1691fs

6 papers

NM_000443.4

p.D564G

c.1691A>G

1 paper

NM_000443.4

p.A562A

c.1686A>G

2 papers

NM_000443.4

p.K577K

c.1731G>A

1 paper

NM_000443.4

p.K577_A578Splc

c.1731+1G>A

1 paper

NM_000443.4

p.K577_A578Splc

c.1731+2T>C