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.K189T

c.566A>C

Surrounding Variants

1 paper

NM_001348946.2

p.K189R

c.566A>G

1 paper

NM_001348946.2

p.D188G

c.563A>G

1 paper

NM_001348946.2

p.I190I

c.570T>C

1 paper

NM_001348946.2

p.G187_D188ins7

c.561_562ins21

1 paper

NM_001348946.2

p.G187G

c.561T>C

6 papers

NM_001348946.2

p.G191R

c.571G>C

7 papers

NM_001348946.2

p.G191R

c.571G>A

2 papers

NM_001348946.2

p.G191A

c.572G>C

1 paper

NM_001348946.2

p.G187A

c.560G>C

5 papers

NM_001348946.2

p.G187S

c.559G>A

1 paper

NM_001348946.2

p.M192R

c.575T>G

1 paper

NM_001348946.2

p.M192T

c.575T>C