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

1–12 of 1946 variants

204 papers

NM_001348946.2

p.S400N

c.1199G>A

160 papers

NM_001348946.2

p.S893A

c.2677T>G

156 papers

NM_001348946.2

p.S893T

c.2677T>A

140 papers

NM_001348946.2

p.G412G

c.1236T>C

137 papers

NM_001348946.2

p.I1145I

c.3435T>C

129 papers

NM_001348946.2

p.N21D

c.61A>G

38 papers

NM_001348946.2

p.S1141T

c.3421T>A

36 papers

NM_001348946.2

p.G185V

c.554G>T

30 papers

NM_001348946.2

p.E556Q

c.1666G>C

30 papers

NM_001348946.2

p.A999T

c.2995G>A

28 papers

NM_001348946.2

p.F103L

c.307T>C

27 papers

NM_001348946.2

p.Q1107P

c.3320A>C