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

3 papers

NM_000593.6

p.D674A

c.2021A>C

Surrounding Variants

1 paper

NM_000593.6

p.S677N

c.2030G>A

1 paper

NM_000593.6

p.Q678H

c.2034G>T

1 paper

NM_000593.6

p.Q678H

c.2034G>C

2 papers

NM_000593.6

p.D668E

c.2004T>G

2 papers

NM_000593.6

p.D668E

c.2004T>A

1 paper

NM_000593.6

p.Q680R

c.2039A>G

2 papers

NM_000593.6

p.D668N

c.2002G>A

1 paper

NM_000593.6

p.I665V

c.1993A>G

1 paper

NM_000593.6

p.P661P

c.1983G>A

1 paper

NM_000593.6

p.K660E

c.1978A>G

4 papers

NM_000593.6

p.R659Q

c.1976G>A

1 paper

NM_000593.6

p.V651G

c.1952T>G