Varaico: Literature-Extracted Genetic Variants

TAP1

280 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 187–458UCSCABC transporter transmembrane region

ABC_tranaa 521–671UCSCABC transporter

Gene Aliases

HGNC Name

transporter 1, ATP binding cassette subfamily B member

HGNC Previous Symbol

ABCB2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000593.6

p.S324*

c.971C>G

Surrounding Variants

1 paper

NM_000593.6

p.S324*

c.971C>A

22 papers

NM_000593.6

p.I333V

c.997A>G

1 paper

NM_000593.6

p.F339I

c.1015T>A

1 paper

NM_000593.6

p.L305F

c.915A>C

1 paper

NM_000593.6

p.L295L

c.883C>T

1 paper

NM_000593.6

p.T292S

c.874A>T

1 paper

NM_000593.6

p.Q350_L351Splc

c.1050+19C>T

1 paper

NM_000593.6

p.E290E

c.870G>A

1 paper

NM_000593.6

p.S286F

c.857C>T

1 paper

NM_000593.6

p.G282C

c.844G>T

1 paper

NM_000593.6

p.L352insFs

c.1054dupC

1 paper

NM_000593.6

p.A370T

c.1108G>A