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

3 papers

NM_001348946.2

p.T215S

c.643A>T

Surrounding Variants

1 paper

NM_001348946.2

p.L214R

c.641T>G

1 paper

NM_001348946.2

p.T215T

c.645C>T

1 paper

NM_001348946.2

p.L216V

c.646C>G

16 papers

NM_001348946.2

p.W212*

c.636G>A

2 papers

NM_001348946.2

p.V217V

c.651G>A

1 paper

NM_001348946.2

p.W212*

c.635G>A

1 paper

NM_001348946.2

p.W212R

c.634T>C

1 paper

NM_001348946.2

p.W212R

c.634T>A

1 paper

NM_001348946.2

p.G211A

c.632G>C

1 paper

NM_001348946.2

p.G211C

c.631G>T

5 papers

NM_001348946.2

p.A220S

c.658G>T

1 paper

NM_001348946.2

p.A220V

c.659C>T