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.A1152V

c.3455C>T

Surrounding Variants

1 paper

NM_001348946.2

p.E1151E

c.3453G>A

1 paper

NM_001348946.2

p.N1153K

c.3459C>G

1 paper

NM_001348946.2

p.N1153K

c.3459C>A

1 paper

NM_001348946.2

p.A1149S

c.3445G>T

1 paper

NM_001348946.2

p.R1147G

c.3439A>G

7 papers

NM_001348946.2

p.I1145M

c.3435T>G

137 papers

NM_001348946.2

p.I1145I

c.3435T>C

NM_001348945.2

p.I1215I

c.3645T>C

8 papers

NM_001348946.2

p.I1145I

c.3435T>A

NM_001348945.2

p.I1215I

c.3645T>A

2 papers

NM_001348946.2

p.E1159K

c.3475G>A

1 paper

NM_001348946.2

p.I1145T

c.3434T>C

2 papers

NM_001348946.2

p.E1144K

c.3430G>A

1 paper

NM_001348946.2

p.P1162S

c.3484C>T