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.G872R

c.2614G>C

Surrounding Variants

2 papers

NM_001348946.2

p.G872R

c.2614G>A

2 papers

NM_001348946.2

p.G872V

c.2615G>T

1 paper

NM_001348946.2

p.A871A

c.2613A>G

1 paper

NM_001348946.2

p.V874A

c.2621T>C

1 paper

NM_001348946.2

p.E875K

c.2623G>A

1 paper

NM_001348946.2

p.A869T

c.2605G>A

1 paper

NM_001348946.2

p.E875A

c.2624A>C

1 paper

NM_001348946.2

p.E875D

c.2625A>T

1 paper

NM_001348946.2

p.E875D

c.2625A>C

1 paper

NM_001348946.2

p.M876V

c.2626A>G

1 paper

NM_001348946.2

p.I868V

c.2602A>G

2 papers

NM_001348946.2

p.M876I

c.2628G>T