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

2 papers

NM_001348946.2

p.T436T

c.1308A>G

Surrounding Variants

2 papers

NM_001348946.2

p.T436T

c.1308A>T

2 papers

NM_001348946.2

p.V437I

c.1309G>A

1 paper

NM_001348946.2

p.V437A

c.1310T>C

1 paper

NM_001348946.2

p.T436A

c.1306A>G

1 paper

NM_001348946.2

p.T435T

c.1305A>G

1 paper

NM_001348946.2

p.T435S

c.1303A>T

1 paper

NM_001348946.2

p.T435A

c.1303A>G

1 paper

NM_001348946.2

p.T435P

c.1303A>C

1 paper

NM_001348946.2

p.S434I

c.1301G>T

2 papers

NM_001348946.2

p.S434C

c.1300A>T

5 papers

NM_001348946.2

p.K433N

c.1299G>T

12 papers

NM_001348946.2

p.K433M

c.1298A>T