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.D562G

c.1685A>G

Surrounding Variants

1 paper

NM_001348946.2

p.S559L

c.1676C>T

1 paper

NM_001348946.2

p.S565S

c.1695C>T

2 papers

NM_001348946.2

p.E566Q

c.1696G>C

5 papers

NM_001348946.2

p.E566K

c.1696G>A

1 paper

NM_001348946.2

p.T558T

c.1674G>A

1 paper

NM_001348946.2

p.T558M

c.1673C>T

1 paper

NM_001348946.2

p.A567E

c.1700C>A

1 paper

NM_001348946.2

p.V568M

c.1702G>A

4 papers

NM_001348946.2

p.E556A

c.1667A>C

30 papers

NM_001348946.2

p.E556Q

c.1666G>C

1 paper

NM_001348946.2

p.D555D

c.1665T>C

4 papers

NM_001348946.2

p.D555N

c.1663G>A