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.L884L

c.2652G>A

Surrounding Variants

1 paper

NM_001348946.2

p.L884R

c.2651T>G

17 papers

NM_001348946.2

p.L884L

c.2650C>T

1 paper

NM_001348946.2

p.D886H

c.2656G>C

2 papers

NM_001348946.2

p.K887N

c.2661G>T

2 papers

NM_001348946.2

p.K887N

c.2661G>C

1 paper

NM_001348946.2

p.G881*

c.2641G>T

1 paper

NM_001348946.2

p.S880S

c.2640T>C

1 paper

NM_001348946.2

p.K888N

c.2664A>T

1 paper

NM_001348946.2

p.K888N

c.2664A>C

1 paper

NM_001348946.2

p.M878T

c.2633T>C

1 paper

NM_001348946.2

p.G892C

c.2674G>T

1 paper

NM_001348946.2

p.G892insFs

c.2674_2675insG