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.T128T

c.384C>T

Surrounding Variants

1 paper

NM_000593.6

p.S127T

c.380G>C

1 paper

NM_000593.6

p.L131P

c.392T>C

1 paper

NM_000593.6

p.S124S

c.372C>A

1 paper

NM_000593.6

p.G134E

c.401G>A

1 paper

NM_000593.6

p.H136H

c.408C>T

1 paper

NM_000593.6

p.T138N

c.413C>A

1 paper

NM_000593.6

p.S118A

c.352T>G

1 paper

NM_000593.6

p.I117_S118insG

c.349_353ins3

1 paper

NM_000593.6

p.E115E

c.345G>A

2 papers

NM_000593.6

p.V142V

c.426C>T

1 paper

NM_000593.6

p.A147_L148insA

c.439_443ins3

1 paper

NM_000593.6

p.A150S

c.448G>T