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

2 papers

NM_001348946.2

p.F208C

c.623T>G

Surrounding Variants

11 papers

NM_001348946.2

p.F208S

c.623T>C

4 papers

NM_001348946.2

p.F208L

c.622T>C

1 paper

NM_001348946.2

p.F208delFs

c.624delA

1 paper

NM_001348946.2

p.G207R

c.619G>C

1 paper

NM_001348946.2

p.G207R

c.619G>A

1 paper

NM_001348946.2

p.T209T

c.627A>G

1 paper

NM_001348946.2

p.T209T

c.627A>C

1 paper

NM_001348946.2

p.V206V

c.618A>T

1 paper

NM_001348946.2

p.G211C

c.631G>T

1 paper

NM_001348946.2

p.I205T

c.614T>C

1 paper

NM_001348946.2

p.G211A

c.632G>C

2 papers

NM_001348946.2

p.I205L

c.613A>T