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

4 papers

NM_000443.4

p.T175M

c.524C>T

Surrounding Variants

2 papers

NM_000443.4

p.T175K

c.524C>A

43 papers

NM_000443.4

p.T175A

c.523A>G

13 papers

NM_000443.4

p.R176W

c.526C>T

1 paper

NM_000443.4

p.R176L

c.527G>T

1 paper

NM_000443.4

p.R176Q

c.527G>A

1 paper

NM_000443.4

p.L173P

c.518T>C

1 paper

NM_000443.4

p.T178S

c.532A>T

1 paper

NM_000443.4

p.D179N

c.535G>A

8 papers

NM_000443.4

p.T171S

c.511A>T

1 paper

NM_000443.4

p.D179Splc

c.536+5G>T

1 paper

NM_000443.4

p.D179Splc

c.536+6T>C

31 papers

NM_000443.4

p.N168N

c.504C>T