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

4 papers

NM_000593.6

p.Q522*

c.1564C>T

Surrounding Variants

1 paper

NM_000593.6

p.L519*

c.1556T>A

1 paper

NM_000593.6

p.V518F

c.1552G>T

2 papers

NM_000593.6

p.V518L

c.1552G>C

1 paper

NM_000593.6

p.V518I

c.1552G>A

1 paper

NM_000593.6

p.D517N

c.1549G>A

1 paper

NM_000593.6

p.P516L

c.1547C>T

1 paper

NM_000593.6

p.R515H

c.1544G>A

1 paper

NM_000593.6

p.F505F

c.1515C>T

1 paper

NM_000593.6

p.Q504L

c.1511A>T

1 paper

NM_000593.6

p.L502insFs

c.1504_1505insGC

1 paper

NM_000593.6

p.L499S

c.1496T>C

1 paper

NM_000593.6

p.L482L

c.1446G>A