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

7 papers

NM_001348946.2

p.K408E

c.1222A>G

Surrounding Variants

1 paper

NM_001348946.2

p.K408Q

c.1222A>C

1 paper

NM_001348946.2

p.V407_K408insFs

c.1221_1222insC

1 paper

NM_001348946.2

p.E406V

c.1217A>T

2 papers

NM_001348946.2

p.E406*

c.1216G>T

3 papers

NM_001348946.2

p.R404Q

c.1211G>A

1 paper

NM_001348946.2

p.R404G

c.1210C>G

1 paper

NM_001348946.2

p.S403F

c.1208C>T

1 paper

NM_001348946.2

p.S403C

c.1208C>G

1 paper

NM_001348946.2

p.S403Y

c.1208C>A

1 paper

NM_001348946.2

p.S403P

c.1207T>C

1 paper

NM_001348946.2

p.P402T

c.1204C>A

2 papers

NM_001348946.2

p.Y401F

c.1202A>T