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.S84R

c.252C>A

Surrounding Variants

1 paper

NM_000593.6

p.S84R

c.252C>G

1 paper

NM_000593.6

p.S84R

c.250A>C

1 paper

NM_000593.6

p.S82A

c.244T>G

1 paper

NM_000593.6

p.V80G

c.239T>G

1 paper

NM_000593.6

p.V80I

c.238G>A

2 papers

NM_000593.6

p.A100fs

c.298_299fs

2 papers

NM_000593.6

p.L99insFs

c.297dupA

1 paper

NM_000593.6

p.W69R

c.205T>A

1 paper

NM_000593.6

p.A101T

c.301G>A

1 paper

NM_000593.6

p.A102_L103insFs

c.306_307insT

1 paper

NM_000593.6

p.A66G

c.197C>G

1 paper

NM_000593.6

p.L62_S63del2

c.184_188del6