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.Y282H

c.844T>C

Surrounding Variants

1 paper

NM_001290043.2

p.M285_L286insA

c.853_857ins3

1 paper

NM_001290043.2

p.V276_K277insC

c.826_830ins3

1 paper

NM_001290043.2

p.R273*

c.817C>T

1 paper

NM_001290043.2

p.R273G

c.817C>G

1 paper

NM_001290043.2

p.A306A

c.918G>A

1 paper

NM_001290043.2

p.K308E

c.922A>G

4 papers

NM_001290043.2

p.R313H

c.938G>A

1 paper

NM_001290043.2

p.E248G

c.743A>G

2 papers

NM_001290043.2

p.E248*

c.742G>T

1 paper

NM_001290043.2

p.G247R

c.739G>C

1 paper

NM_001290043.2

p.G247R

c.739G>A

1 paper

NM_001290043.2

p.R235C

c.703C>T