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

2 papers

NM_001348946.2

p.T101A

c.301A>G

Surrounding Variants

1 paper

NM_001348946.2

p.T101S

c.301A>T

1 paper

NM_001348946.2

p.T101P

c.301A>C

1 paper

NM_001348946.2

p.D100E

c.300T>G

2 papers

NM_001348946.2

p.N99_D100delFs

c.296_299del4

1 paper

NM_001348946.2

p.G102R

c.304G>C

2 papers

NM_001348946.2

p.G102R

c.304G>A

1 paper

NM_001348946.2

p.D100N

c.298G>A

1 paper

NM_001348946.2

p.G102E

c.305G>A

1 paper

NM_001348946.2

p.G102G

c.306G>A

1 paper

NM_001348946.2

p.F103V

c.307T>G

28 papers

NM_001348946.2

p.F103L

c.307T>C

1 paper

NM_001348946.2

p.N99H

c.295A>C