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.E108D

c.324G>C

Surrounding Variants

5 papers

NM_001348946.2

p.E109K

c.325G>A

1 paper

NM_001348946.2

p.E108G

c.323A>G

5 papers

NM_001348946.2

p.E108K

c.322G>A

1 paper

NM_001348946.2

p.E109G

c.326A>G

1 paper

NM_001348946.2

p.E109E

c.327A>G

1 paper

NM_001348946.2

p.E109D

c.327A>C

1 paper

NM_001348946.2

p.L107R

c.320T>G

1 paper

NM_001348946.2

p.D110H

c.328G>C

2 papers

NM_001348946.2

p.T112I

c.335C>T

1 paper

NM_001348946.2

p.M105L

c.313A>T

4 papers

NM_001348946.2

p.M105V

c.313A>G

1 paper

NM_001348946.2

p.M105L

c.313A>C