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

6 papers

NM_001348946.2

p.F17L

c.49T>C

Surrounding Variants

2 papers

NM_001348946.2

p.F16L

c.48T>G

1 paper

NM_001348946.2

p.F16L

c.48T>A

2 papers

NM_001348946.2

p.F17L

c.51T>G

1 paper

NM_001348946.2

p.F16S

c.47T>C

2 papers

NM_001348946.2

p.F17L

c.51T>A

1 paper

NM_001348946.2

p.F16Y

c.47T>A

1 paper

NM_001348946.2

p.F16L

c.46T>C

1 paper

NM_001348946.2

p.K14_N15del1

c.42_44delTTC

3 papers

NM_001348946.2

p.K18I

c.53A>T

4 papers

NM_001348946.2

p.N15S

c.44A>G

1 paper

NM_001348946.2

p.N15T

c.44A>C

1 paper

NM_001348946.2

p.L19M

c.55C>A