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.R494H

c.1481G>A

Surrounding Variants

1 paper

NM_001290043.2

p.V498L

c.1492G>T

1 paper

NM_001290043.2

p.V498L

c.1492G>C

1 paper

NM_001290043.2

p.G488A

c.1463G>C

1 paper

NM_001290043.2

p.V502insFs

c.1504_1505insGC

1 paper

NM_001290043.2

p.G503E

c.1508G>A

2 papers

NM_001290043.2

p.K509M

c.1526A>T

1 paper

NM_001290043.2

p.A513S

c.1537G>T

1 paper

NM_001290043.2

p.L519M

c.1555C>A

1 paper

NM_001290043.2

p.T523delFs

c.1569delT

1 paper

NM_001290043.2

p.G525fs

c.1573_1574fs

1 paper

NM_001290043.2

p.L528L

c.1584G>A

1 paper

NM_001290043.2

p.Q536*

c.1606C>T