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.V964E

c.2891T>A

Surrounding Variants

2 papers

NM_000443.4

p.G959V

c.2876G>T

11 papers

NM_000443.4

p.R969H

c.2906G>A

1 paper

NM_000443.4

p.F970L

c.2908T>C

1 paper

NM_000443.4

p.R957L

c.2870G>T

15 papers

NM_000443.4

p.R957*

c.2869C>T

8 papers

NM_000443.4

p.D972N

c.2914G>A

1 paper

NM_000443.4

p.C955G

c.2863T>G

14 papers

NM_000443.4

p.G954S

c.2860G>A

2 papers

NM_000443.4

p.L975V

c.2923C>G

12 papers

NM_000443.4

p.A953D

c.2858C>A

2 papers

NM_000443.4

p.L975Splc

c.2924+1G>A

1 paper

NM_000443.4

p.Y949F

c.2846A>T