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.G604G

c.1812A>G

Surrounding Variants

1 paper

NM_001290043.2

p.A608S

c.1822G>T

1 paper

NM_001290043.2

p.A609V

c.1826C>T

1 paper

NM_001290043.2

p.A609G

c.1826C>G

1 paper

NM_001290043.2

p.G610V

c.1829G>T

1 paper

NM_001290043.2

p.D599Y

c.1795G>T

1 paper

NM_001290043.2

p.R614C

c.1840C>T

1 paper

NM_001290043.2

p.R614H

c.1841G>A

1 paper

NM_001290043.2

p.R623*

c.1867C>T

1 paper

NM_001290043.2

p.P625S

c.1873C>T

1 paper

NM_001290043.2

p.E632Q

c.1894G>C

1 paper

NM_001290043.2

p.E632D

c.1896G>T

1 paper

NM_001290043.2

p.E632D

c.1896G>C