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.G723_L724insFs

c.2169_2170insG

Surrounding Variants

1 paper

NM_000443.4

p.L724R

c.2171T>G

1 paper

NM_000443.4

p.L724P

c.2171T>C

1 paper

NM_000443.4

p.G723A

c.2168G>C

5 papers

NM_000443.4

p.G723E

c.2168G>A

1 paper

NM_000443.4

p.Q725R

c.2174A>G

1 paper

NM_000443.4

p.Q725P

c.2174A>C

2 papers

NM_000443.4

p.G722A

c.2165G>C

1 paper

NM_000443.4

p.Q725delins

c.2174_2175delinsCC

4 papers

NM_000443.4

p.P726T

c.2176C>A

21 papers

NM_000443.4

p.P726L

c.2177C>T

1 paper

NM_000443.4

p.P726P

c.2178G>A

1 paper

NM_000443.4

p.A727T

c.2179G>A