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.L464V

c.1390C>G

Surrounding Variants

1 paper

NM_001290043.2

p.V467fs

c.1399_1400fs

1 paper

NM_001290043.2

p.V467I

c.1399G>A

1 paper

NM_001290043.2

p.V467delFs

c.1399delC

1 paper

NM_001290043.2

p.V473I

c.1417G>A

1 paper

NM_001290043.2

p.L453L

c.1359G>T

1 paper

NM_001290043.2

p.A476T

c.1426G>A

5 papers

NM_001290043.2

p.R449*

c.1345C>T

2 papers

NM_001290043.2

p.N436N

c.1308C>T

1 paper

NM_001290043.2

p.L434fs

c.1300_1301fs

1 paper

NM_001290043.2

p.G488A

c.1463G>C

1 paper

NM_001290043.2

p.R494H

c.1481G>A

1 paper

NM_001290043.2

p.V498L

c.1492G>T