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.G844R

c.2530G>A

Surrounding Variants

1 paper

NM_001348946.2

p.G844R

c.2530G>C

1 paper

NM_001348946.2

p.L843R

c.2528T>G

1 paper

NM_001348946.2

p.L843V

c.2527C>G

1 paper

NM_001348946.2

p.L843I

c.2527C>A

1 paper

NM_001348946.2

p.T845I

c.2534C>T

1 paper

NM_001348946.2

p.G846R

c.2536G>C

1 paper

NM_001348946.2

p.G846R

c.2536G>A

1 paper

NM_001348946.2

p.N842H

c.2524A>C

1 paper

NM_001348946.2

p.I840V

c.2518A>G

1 paper

NM_001348946.2

p.I848S

c.2543T>G

1 paper

NM_001348946.2

p.N839I

c.2516A>T

1 paper

NM_001348946.2

p.I849T

c.2546T>C