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.D6D

c.18C>T

Surrounding Variants

1 paper

NM_001348946.2

p.D6insFs

c.17dupA

1 paper

NM_001348946.2

p.D2_G5del4

c.4_14del12

2 papers

NM_001348946.2

p.R7C

c.19C>T

2 papers

NM_001348946.2

p.R7H

c.20G>A

2 papers

NM_001348946.2

p.G5G

c.15G>C

1 paper

NM_001348946.2

p.G5G

c.15G>A

1 paper

NM_001348946.2

p.R7R

c.21C>A

2 papers

NM_001348946.2

p.G5V

c.14G>T

2 papers

NM_001348946.2

p.N8Y

c.22A>T

1 paper

NM_001348946.2

p.N8D

c.22A>G

2 papers

NM_001348946.2

p.G5R

c.13G>C

1 paper

NM_001348946.2

p.G5R

c.13G>A