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

5 papers

NM_001348946.2

p.C431R

c.1291T>C

Surrounding Variants

1 paper

NM_001348946.2

p.C431S

c.1291T>A

1 paper

NM_001348946.2

p.C431F

c.1292G>T

1 paper

NM_001348946.2

p.C431S

c.1292G>C

3 papers

NM_001348946.2

p.C431W

c.1293T>G

1 paper

NM_001348946.2

p.G430C

c.1288G>T

2 papers

NM_001348946.2

p.G432G

c.1296G>T

1 paper

NM_001348946.2

p.S429C

c.1285A>T

12 papers

NM_001348946.2

p.K433M

c.1298A>T

21 papers

NM_001348946.2

p.K433T

c.1298A>C

5 papers

NM_001348946.2

p.K433N

c.1299G>T

2 papers

NM_001348946.2

p.S434C

c.1300A>T

1 paper

NM_001348946.2

p.S434I

c.1301G>T