Varaico: Literature-Extracted Genetic Variants

TAP2

263 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 152–422UCSCABC transporter transmembrane region

ABC_tranaa 486–635UCSCABC transporter

Gene Aliases

HGNC Name

transporter 2, ATP binding cassette subfamily B member

HGNC Previous Symbol

ABCB3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001290043.2

p.K135N

c.405A>C

Surrounding Variants

1 paper

NM_001290043.2

p.K135N

c.405A>T

1 paper

NM_001290043.2

p.W139*

c.416G>A

1 paper

NM_001290043.2

p.W139*

c.417G>A

1 paper

NM_001290043.2

p.D130G

c.389A>G

1 paper

NM_001290043.2

p.Q129E

c.385C>G

1 paper

NM_001290043.2

p.K127E

c.379A>G

1 paper

NM_001290043.2

p.Q125L

c.374A>T

2 papers

NM_001290043.2

p.Q125delFs

c.373delG

2 papers

NM_001290043.2

p.Q125fs

c.373_374fs

1 paper

NM_001290043.2

p.L119V

c.355C>G

1 paper

NM_001290043.2

p.F156S

c.467T>C

1 paper

NM_001290043.2

p.Y106Y

c.318C>T