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

2 papers

NM_000593.6

p.L187F

c.559C>T

Surrounding Variants

1 paper

NM_000593.6

p.R185_L187del3

c.553_560del9

1 paper

NM_000593.6

p.G181R

c.541G>C

1 paper

NM_000593.6

p.L193fs

c.577_578fs

1 paper

NM_000593.6

p.L193P

c.578T>C

1 paper

NM_000593.6

p.L193delFs

c.577delG

2 papers

NM_000593.6

p.L180P

c.539T>C

1 paper

NM_000593.6

p.S197F

c.590C>T

1 paper

NM_000593.6

p.S197insFs

c.590_591ins4

1 paper

NM_000593.6

p.R174H

c.521G>A

1 paper

NM_000593.6

p.P172L

c.515C>T

1 paper

NM_000593.6

p.P172T

c.514C>A

1 paper

NM_000593.6

p.G170A

c.509G>C