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.S532R

c.1596T>G

Surrounding Variants

2 papers

NM_001348946.2

p.S532R

c.1596T>A

1 paper

NM_001348946.2

p.G533C

c.1597G>T

1 paper

NM_001348946.2

p.G533S

c.1597G>A

1 paper

NM_001348946.2

p.S532N

c.1595G>A

2 papers

NM_001348946.2

p.S532C

c.1594A>T

2 papers

NM_001348946.2

p.S532R

c.1594A>C

2 papers

NM_001348946.2

p.G534V

c.1601G>T

4 papers

NM_001348946.2

p.G534E

c.1601G>A

1 paper

NM_001348946.2

p.G534G

c.1602G>T

2 papers

NM_001348946.2

p.Q535*

c.1603C>T

1 paper

NM_001348946.2

p.G534_Q535delins

c.1602_1603delinsTT

1 paper

NM_001348946.2

p.A529fs

c.1585_1586fs