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

1–12 of 193 variants

22 papers

NM_000593.6

p.I333V

c.997A>G

20 papers

NM_000593.6

p.D637G

c.1910A>G

6 papers

NM_000593.6

p.K393E

c.1177A>G

4 papers

NM_000593.6

p.Q522*

c.1564C>T

4 papers

NM_000593.6

p.R648Q

c.1943G>A

4 papers

NM_000593.6

p.R659Q

c.1976G>A

3 papers

NM_000593.6

p.R378*

c.1132C>T

3 papers

NM_000593.6

p.V458L

c.1372G>T

3 papers

NM_000593.6

p.V458L

c.1372G>C

3 papers

NM_000593.6

p.G646D

c.1937G>A

3 papers

NM_000593.6

p.D674A

c.2021A>C

2 papers

NM_000593.6

p.M1T

c.2T>C