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.V34V

c.102G>A

Surrounding Variants

1 paper

NM_000593.6

p.W33C

c.99G>T

1 paper

NM_000593.6

p.W33C

c.99G>C

1 paper

NM_000593.6

p.A39_L40insFs

c.117_118insG

1 paper

NM_000593.6

p.S45_L46delins

c.135_136delinsAT

1 paper

NM_000593.6

p.A21delFs

c.62_63delTG

1 paper

NM_000593.6

p.P49fs

c.145_146fs

1 paper

NM_000593.6

p.P49_T50insFs

c.147_148insA

1 paper

NM_000593.6

p.S19F

c.56C>T

1 paper

NM_000593.6

p.G17A

c.50G>C

1 paper

NM_000593.6

p.G17E

c.50G>A

1 paper

NM_000593.6

p.L52L

c.154C>T

1 paper

NM_000593.6

p.G17R

c.49G>C