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.A424A

c.1272C>A

Surrounding Variants

1 paper

NM_001348946.2

p.L425L

c.1273C>T

1 paper

NM_001348946.2

p.L425R

c.1274T>G

2 papers

NM_001348946.2

p.V423V

c.1269G>A

1 paper

NM_001348946.2

p.V426A

c.1277T>C

1 paper

NM_001348946.2

p.V423M

c.1267G>A

1 paper

NM_001348946.2

p.T422M

c.1265C>T

1 paper

NM_001348946.2

p.G427E

c.1280G>A

1 paper

NM_001348946.2

p.G420_Q421del1

c.1260_1262delTGC

1 paper

NM_001348946.2

p.S419_T422delins

c.1256_1264delinsTCA

2 papers

NM_001348946.2

p.Q421R

c.1262A>G

1 paper

NM_001348946.2

p.G420G

c.1260G>T

1 paper

NM_001348946.2

p.S429C

c.1285A>T