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.P223L

c.668C>T

Surrounding Variants

1 paper

NM_001348946.2

p.P223R

c.668C>G

1 paper

NM_001348946.2

p.P223H

c.668C>A

1 paper

NM_001348946.2

p.P223P

c.669T>A

1 paper

NM_001348946.2

p.P223S

c.667C>T

2 papers

NM_001348946.2

p.P223A

c.667C>G

1 paper

NM_001348946.2

p.S222R

c.666T>G

1 paper

NM_001348946.2

p.S222R

c.666T>A

1 paper

NM_001348946.2

p.V224D

c.671T>A

1 paper

NM_001348946.2

p.S222T

c.665G>C

1 paper

NM_001348946.2

p.S222N

c.665G>A

1 paper

NM_001348946.2

p.V224_L225insFs

c.672_673insA

3 papers

NM_001348946.2

p.S222C

c.664A>T