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.Q551*

c.1651C>T

Surrounding Variants

1 paper

NM_001290043.2

p.Q551H

c.1653G>T

1 paper

NM_001290043.2

p.Q551H

c.1653G>C

1 paper

NM_001290043.2

p.G558C

c.1672G>T

1 paper

NM_001290043.2

p.A565S

c.1693G>T

15 papers

NM_001290043.2

p.A565T

c.1693G>A

1 paper

NM_001290043.2

p.C571S

c.1711T>A

1 paper

NM_001290043.2

p.C571S

c.1712G>C

1 paper

NM_001290043.2

p.E572K

c.1714G>A

1 paper

NM_001290043.2

p.D573G

c.1718A>G

1 paper

NM_001290043.2

p.D573D

c.1719T>C

1 paper

NM_001290043.2

p.D574D

c.1722T>C

2 papers

NM_001290043.2

p.M577V

c.1729A>G