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.S379A

c.1135T>G

Surrounding Variants

1 paper

NM_001348946.2

p.S379*

c.1136C>A

1 paper

NM_001348946.2

p.Y378F

c.1133A>T

1 paper

NM_001348946.2

p.K380_S381Fs

c.1140_1141delinsTFs

1 paper

NM_001348946.2

p.G382R

c.1144G>C

1 paper

NM_001348946.2

p.G382R

c.1144G>A

1 paper

NM_001348946.2

p.H383N

c.1147C>A

1 paper

NM_001348946.2

p.P373S

c.1117C>T

1 paper

NM_001348946.2

p.K372K

c.1116G>A

1 paper

NM_001348946.2

p.P385R

c.1154C>G

1 paper

NM_001348946.2

p.K372M

c.1115A>T

1 paper

NM_001348946.2

p.I388S

c.1163T>G

1 paper

NM_001348946.2

p.K389M

c.1166A>T