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

2 papers

NM_001348946.2

p.G226E

c.677G>A

Surrounding Variants

2 papers

NM_001348946.2

p.G226V

c.677G>T

1 paper

NM_001348946.2

p.G226R

c.676G>C

1 paper

NM_001348946.2

p.G226R

c.676G>A

1 paper

NM_001348946.2

p.L225R

c.674T>G

21 papers

NM_001348946.2

p.L227L

c.681G>A

1 paper

NM_001348946.2

p.V224_L225insFs

c.672_673insA

1 paper

NM_001348946.2

p.S228T

c.682T>A

1 paper

NM_001348946.2

p.V224D

c.671T>A

1 paper

NM_001348946.2

p.S228*

c.683C>G

1 paper

NM_001348946.2

p.S228*

c.683C>A

1 paper

NM_001348946.2

p.P223P

c.669T>A

3 papers

NM_001348946.2

p.P223L

c.668C>T