Varaico: Literature-Extracted Genetic Variants

ABCB1

2,565 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-cellula...

Pfam Domains

ABC_membraneaa 51–343UCSCABC transporter transmembrane region

ABC_tranaa 410–559UCSCABC transporter

ABC_membraneaa 711–986UCSCABC transporter transmembrane region

ABC_tranaa 1053–1204UCSCABC transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily B member 1

HGNC Previous Symbols

PGY1; MDR1; CLCS

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001348946.2

p.L857R

c.2570T>G

Surrounding Variants

2 papers

NM_001348946.2

p.L857P

c.2570T>C

1 paper

NM_001348946.2

p.Q856*

c.2566C>T

1 paper

NM_001348946.2

p.T858T

c.2574A>G

1 paper

NM_001348946.2

p.W855C

c.2565G>T

1 paper

NM_001348946.2

p.W855C

c.2565G>C

1 paper

NM_001348946.2

p.W855R

c.2563T>C

1 paper

NM_001348946.2

p.W855R

c.2563T>A

1 paper

NM_001348946.2

p.L859L

c.2577G>A

2 papers

NM_001348946.2

p.G854G

c.2562T>G

1 paper

NM_001348946.2

p.G854V

c.2561G>T

1 paper

NM_001348946.2

p.G854C

c.2560G>T

4 papers

NM_001348946.2

p.L860F

c.2580A>T