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

4 papers

NM_001348946.2

p.M105V

c.313A>G

Surrounding Variants

1 paper

NM_001348946.2

p.M105L

c.313A>T

1 paper

NM_001348946.2

p.M105L

c.313A>C

2 papers

NM_001348946.2

p.F104Y

c.311T>A

1 paper

NM_001348946.2

p.F104L

c.310T>C

13 papers

NM_001348946.2

p.F103L

c.309C>G

13 papers

NM_001348946.2

p.F103L

c.309C>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.L107R

c.320T>G

1 paper

NM_001348946.2

p.G102G

c.306G>A

1 paper

NM_001348946.2

p.G102E

c.305G>A

1 paper

NM_001348946.2

p.G102R

c.304G>C