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

4 papers

NM_001348946.2

p.R1138Q

c.3413G>A

Surrounding Variants

1 paper

NM_001348946.2

p.R1138P

c.3413G>C

2 papers

NM_001348946.2

p.R1138W

c.3412C>T

1 paper

NM_001348946.2

p.S1137I

c.3410G>T

1 paper

NM_001348946.2

p.S1137C

c.3409A>T

1 paper

NM_001348946.2

p.V1140L

c.3418G>T

1 paper

NM_001348946.2

p.V1140L

c.3418G>C

38 papers

NM_001348946.2

p.S1141T

c.3421T>A

2 papers

NM_001348946.2

p.G1134R

c.3400G>C

2 papers

NM_001348946.2

p.G1134R

c.3400G>A

2 papers

NM_001348946.2

p.E1144K

c.3430G>A

18 papers

NM_001348946.2

p.A1132A

c.3396C>T

1 paper

NM_001348946.2

p.I1145T

c.3434T>C