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

2 papers

NM_001348946.2

p.L1113M

c.3337C>A

Surrounding Variants

1 paper

NM_001348946.2

p.I1115T

c.3344T>C

1 paper

NM_001348946.2

p.R1110Q

c.3329G>A

1 paper

NM_001348946.2

p.I1115I

c.3345C>T

1 paper

NM_001348946.2

p.R1110*

c.3328C>T

1 paper

NM_001348946.2

p.V1116V

c.3348G>A

1 paper

NM_001348946.2

p.S1117T

c.3349T>A

9 papers

NM_001348946.2

p.W1108R

c.3322T>C

8 papers

NM_001348946.2

p.W1108R

c.3322T>A

1 paper

NM_001348946.2

p.Q1118*

c.3352C>T

1 paper

NM_001348946.2

p.Q1107R

c.3320A>G

27 papers

NM_001348946.2

p.Q1107P

c.3320A>C

1 paper

NM_001348946.2

p.V1106ins2

c.3316_3317ins6