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.T655A

c.1963A>G

Surrounding Variants

10 papers

NM_001290043.2

p.R651C

c.1951C>T

2 papers

NM_001290043.2

p.R651S

c.1951C>A

1 paper

NM_001290043.2

p.A660G

c.1979C>G

1 paper

NM_001290043.2

p.H661Q

c.1983C>G

1 paper

NM_001290043.2

p.H661Q

c.1983C>A

14 papers

NM_001290043.2

p.T665A

c.1993A>G

1 paper

NM_001290043.2

p.R668C

c.2002C>T

1 paper

NM_001290043.2

p.Q671*

c.2011C>T

1 paper

NM_001290043.2

p.V674A

c.2021T>C

9 papers

NM_001290043.2

p.*687Q

c.2059T>C

1 paper

NM_001290043.2

p.D638A

c.1913A>C

1 paper

NM_001290043.2

p.E632D

c.1896G>T