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.G894delFs

c.2680_2681delCC

Surrounding Variants

1 paper

NM_001348946.2

p.K895_I896Splc

c.2685+1G>T

1 paper

NM_001348946.2

p.K895_I896Splc

c.2685+1G>C

1 paper

NM_001348946.2

p.G894R

c.2680G>C

1 paper

NM_001348946.2

p.G894R

c.2680G>A

1 paper

NM_001348946.2

p.S893Y

c.2678C>A

160 papers

NM_001348946.2

p.S893A

c.2677T>G

4 papers

NM_001348946.2

p.S893P

c.2677T>C

156 papers

NM_001348946.2

p.S893T

c.2677T>A

1 paper

NM_001348946.2

p.G892insFs

c.2674_2675insG

1 paper

NM_001348946.2

p.G892C

c.2674G>T

1 paper

NM_001348946.2

p.K888N

c.2664A>T

1 paper

NM_001348946.2

p.K888N

c.2664A>C