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.M197I

c.591G>A

Surrounding Variants

1 paper

NM_001348946.2

p.M197I

c.591G>T

1 paper

NM_001348946.2

p.M197I

c.591G>C

1 paper

NM_001348946.2

p.M197R

c.590T>G

1 paper

NM_001348946.2

p.M197K

c.590T>A

1 paper

NM_001348946.2

p.A198T

c.592G>A

1 paper

NM_001348946.2

p.S196S

c.588A>T

1 paper

NM_001348946.2

p.T199A

c.595A>G

1 paper

NM_001348946.2

p.T199I

c.596C>T

4 papers

NM_001348946.2

p.T199R

c.596C>G

2 papers

NM_001348946.2

p.F200L

c.598T>C

1 paper

NM_001348946.2

p.F200I

c.598T>A

1 paper

NM_001348946.2

p.Q195R

c.584A>G