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.F399L

c.1197C>G

Surrounding Variants

1 paper

NM_001348946.2

p.F399L

c.1197C>A

1 paper

NM_001348946.2

p.F399S

c.1196T>C

1 paper

NM_001348946.2

p.F399L

c.1195T>C

12 papers

NM_001348946.2

p.S400I

c.1199G>T

1 paper

NM_001348946.2

p.S400T

c.1199G>C

204 papers

NM_001348946.2

p.S400N

c.1199G>A

1 paper

NM_001348946.2

p.H398L

c.1193A>T

1 paper

NM_001348945.2

p.H468Y

c.1402C>T

1 paper

NM_001348946.2

p.H398N

c.1192C>A

2 papers

NM_001348946.2

p.Y401F

c.1202A>T

2 papers

NM_001348946.2

p.Y401C

c.1202A>G

1 paper

NM_001348946.2

p.P402T

c.1204C>A