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.A1006insFs

c.3016_3017insC

Surrounding Variants

1 paper

NM_001348946.2

p.H1007L

c.3020A>T

2 papers

NM_001348946.2

p.H1007insFs

c.3020_3021insC

30 papers

NM_001348946.2

p.A999T

c.2995G>A

1 paper

NM_001348946.2

p.Y998Y

c.2994T>C

1 paper

NM_001348946.2

p.E1013V

c.3038A>T

1 paper

NM_001348946.2

p.E1013A

c.3038A>C

2 papers

NM_001348946.2

p.K1014R

c.3041A>G

1 paper

NM_001348946.2

p.D997N

c.2989G>A

1 paper

NM_001348946.2

p.T1015fs

c.3043_3044fs

2 papers

NM_001348946.2

p.T1015A

c.3043A>G

1 paper

NM_001348946.2

p.T1015insFs

c.3044_3045insA

1 paper

NM_001348946.2

p.T1015delFs

c.3043delT