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.K416R

c.1247A>G

Surrounding Variants

1 paper

NM_001348946.2

p.K416delFs

c.1246delT

1 paper

NM_001348946.2

p.K416*

c.1246A>T

1 paper

NM_001348946.2

p.K416E

c.1246A>G

1 paper

NM_001348946.2

p.V417L

c.1249G>T

1 paper

NM_001348946.2

p.L415L

c.1245G>C

20 papers

NM_001348946.2

p.V417M

c.1249G>A

1 paper

NM_001348946.2

p.Q418R

c.1253A>G

1 paper

NM_001348946.2

p.L413P

c.1238T>C

1 paper

NM_001348946.2

p.S419T

c.1256G>C

2 papers

NM_001348946.2

p.L413L

c.1237C>T

140 papers

NM_001348946.2

p.G412G

c.1236T>C

1 paper

NM_001348946.2

p.G420G

c.1260G>T