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

2 papers

NM_001290043.2

p.F189I

c.565T>A

Surrounding Variants

1 paper

NM_001290043.2

p.A192T

c.574G>A

2 papers

NM_001290043.2

p.I193T

c.578T>C

1 paper

NM_001290043.2

p.G181R

c.541G>C

1 paper

NM_001290043.2

p.G181R

c.541G>A

1 paper

NM_001290043.2

p.L198I

c.592C>A

1 paper

NM_001290043.2

p.F199F

c.597C>T

1 paper

NM_001290043.2

p.S200C

c.599C>G

2 papers

NM_001290043.2

p.R175H

c.524G>A

2 papers

NM_001290043.2

p.S203R

c.607A>C

1 paper

NM_001290043.2

p.S203Splc

c.608+7G>A

1 paper

NM_001290043.2

p.F156S

c.467T>C

1 paper

NM_001290043.2

p.W139*

c.417G>A