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

19 papers

NM_000443.4

p.L556R

c.1667T>G

Surrounding Variants

1 paper

NM_000443.4

p.L556delFs

c.1667delA

1 paper

NM_000443.4

p.L556fs

c.1666_1667fs

6 papers

NM_000443.4

p.E558Q

c.1672G>C

5 papers

NM_000443.4

p.E558K

c.1672G>A

1 paper

NM_000443.4

p.A546_L554insFs

c.1638_1660dup23

1 paper

NM_000443.4

p.E558D

c.1674G>C

1 paper

NM_000443.4

p.L554F

c.1660C>T

3 papers

NM_000443.4

p.A559T

c.1675G>A

1 paper

NM_000443.4

p.I553I

c.1659C>T

2 papers

NM_000443.4

p.T560M

c.1679C>T

1 paper

NM_000443.4

p.P551L

c.1652C>T

3 papers

NM_000443.4

p.N550K

c.1650C>G