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.Q642fs

c.1924_1925fs

Surrounding Variants

1 paper

NM_000593.6

p.S644A

c.1930T>G

1 paper

NM_000593.6

p.G645R

c.1933G>C

1 paper

NM_000593.6

p.G645R

c.1933G>A

1 paper

NM_000593.6

p.G645G

c.1935G>A

1 paper

NM_000593.6

p.G646S

c.1936G>A

1 paper

NM_000593.6

p.G646V

c.1937G>T

3 papers

NM_000593.6

p.G646D

c.1937G>A

1 paper

NM_000593.6

p.D637V

c.1910A>T

20 papers

NM_000593.6

p.D637G

c.1910A>G

1 paper

NM_000593.6

p.D637A

c.1910A>C

4 papers

NM_000593.6

p.R648Q

c.1943G>A

1 paper

NM_000593.6

p.V651G

c.1952T>G