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.F994Y

c.2981T>A

Surrounding Variants

1 paper

NM_001348946.2

p.F994C

c.2981T>G

1 paper

NM_001348946.2

p.S993S

c.2979A>G

2 papers

NM_001348946.2

p.S993A

c.2977T>G

1 paper

NM_001348946.2

p.S992R

c.2976T>G

1 paper

NM_001348946.2

p.S992R

c.2976T>A

1 paper

NM_001348946.2

p.S992N

c.2975G>A

1 paper

NM_001348946.2

p.S992C

c.2974A>T

1 paper

NM_001348946.2

p.S992G

c.2974A>G

1 paper

NM_001348946.2

p.S992R

c.2974A>C

1 paper

NM_001348946.2

p.D997N

c.2989G>A

2 papers

NM_001348946.2

p.V991A

c.2972T>C

1 paper

NM_001348946.2

p.Q990R

c.2969A>G