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

1–12 of 172 variants

15 papers

NM_001290043.2

p.A565T

c.1693G>A

14 papers

NM_001290043.2

p.T665A

c.1993A>G

13 papers

NM_001290043.2

p.V379I

c.1135G>A

10 papers

NM_001290043.2

p.R651C

c.1951C>T

9 papers

NM_001290043.2

p.*687Q

c.2059T>C

5 papers

NM_001290043.2

p.R449*

c.1345C>T

4 papers

NM_001290043.2

p.L75delFs

c.223delG

4 papers

NM_001290043.2

p.N222I

c.665A>T

4 papers

NM_001290043.2

p.R313H

c.938G>A

3 papers

NM_001290043.2

p.L75fs

c.223_224fs

2 papers

NM_001290043.2

p.Q125fs

c.373_374fs

2 papers

NM_001290043.2

p.Q125delFs

c.373delG