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

3 papers

NM_001348946.2

p.R538M

c.1613G>T

Surrounding Variants

1 paper

NM_001348946.2

p.R538K

c.1613G>A

1 paper

NM_001348946.2

p.R538S

c.1614G>T

1 paper

NM_001348946.2

p.R538S

c.1614G>C

2 papers

NM_001348946.2

p.I539T

c.1616T>C

2 papers

NM_001348946.2

p.I539I

c.1617C>T

1 paper

NM_001348946.2

p.Q537*

c.1609C>T

1 paper

NM_001348946.2

p.A540T

c.1618G>A

1 paper

NM_001348945.2

p.A610V

c.1829C>T

3 papers

NM_001348946.2

p.K536R

c.1607A>G

1 paper

NM_001348946.2

p.K536insFs

c.1607_1608insG

2 papers

NM_001348946.2

p.K536Q

c.1606A>C

2 papers

NM_001348946.2

p.I541F

c.1621A>T