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.I864S

c.2591T>G

Surrounding Variants

1 paper

NM_001348946.2

p.I864F

c.2590A>T

1 paper

NM_001348946.2

p.V865I

c.2593G>A

3 papers

NM_001348946.2

p.P866A

c.2596C>G

2 papers

NM_001348946.2

p.P866L

c.2597C>T

1 paper

NM_001348946.2

p.P866R

c.2597C>G

1 paper

NM_001348946.2

p.L862V

c.2584T>G

1 paper

NM_001348946.2

p.L861R

c.2582T>G

1 paper

NM_001348946.2

p.L861P

c.2582T>C

1 paper

NM_001348946.2

p.L861I

c.2581C>A

4 papers

NM_001348946.2

p.L860F

c.2580A>T

1 paper

NM_001348946.2

p.I868V

c.2602A>G

4 papers

NM_001348946.2

p.L860F

c.2580A>C