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.I182M

c.546T>G

Surrounding Variants

1 paper

NM_001348946.2

p.I182S

c.545T>G

26 papers

NM_001348946.2

p.N183S

c.548A>G

1 paper

NM_001348946.2

p.K181N

c.543G>T

1 paper

NM_001348946.2

p.K181N

c.543G>C

1 paper

NM_001348946.2

p.E184V

c.551A>T

1 paper

NM_001348946.2

p.K181E

c.541A>G

1 paper

NM_001348946.2

p.E184A

c.551A>C

4 papers

NM_001348946.2

p.S180S

c.540C>T

2 papers

NM_001348946.2

p.E184D

c.552A>C

36 papers

NM_001348946.2

p.G185V

c.554G>T

2 papers

NM_001348946.2

p.G185E

c.554G>A

1 paper

NM_001348946.2

p.G185G

c.555A>T