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

4 papers

NM_001348946.2

p.E448K

c.1342G>A

Surrounding Variants

1 paper

NM_001348946.2

p.E448*

c.1342G>T

1 paper

NM_001348946.2

p.G449R

c.1345G>C

2 papers

NM_001348946.2

p.G449R

c.1345G>A

1 paper

NM_001348946.2

p.Y444*

c.1332T>G

1 paper

NM_001348946.2

p.M450_V451Splc

c.1350+2T>A

1 paper

NM_001348946.2

p.Y444*

c.1332T>A

1 paper

NM_001348946.2

p.Y444F

c.1331A>T

1 paper

NM_001348946.2

p.Y444S

c.1331A>C

1 paper

NM_001348946.2

p.L443R

c.1328T>G

2 papers

NM_001348946.2

p.L443F

c.1327C>T

1 paper

NM_001348946.2

p.L443insFs

c.1327_1328insA

2 papers

NM_001348946.2

p.R442R

c.1326G>A