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

10 papers

NM_000443.4

p.R150K

c.449G>A

Surrounding Variants

1 paper

NM_000443.4

p.Q151R

c.452A>G

1 paper

NM_000443.4

p.R150_Q151delFs

c.450_451delGC

1 paper

NM_000443.4

p.Q151H

c.453G>T

1 paper

NM_000443.4

p.Q151H

c.453G>C

1 paper

NM_000443.4

p.K152K

c.456G>A

1 paper

NM_000443.4

p.R147R

c.441G>A

1 paper

NM_000443.4

p.R147K

c.440G>A

2 papers

NM_000443.4

p.F153F

c.459T>C

2 papers

NM_000443.4

p.R147W

c.439A>T

1 paper

NM_000443.4

p.F154S

c.461T>C

1 paper

NM_000443.4

p.F154Y

c.461T>A

1 paper

NM_000443.4

p.Q145H

c.435G>T