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

2 papers

NM_001290043.2

p.A374T

c.1120G>A

Surrounding Variants

1 paper

NM_001290043.2

p.A374V

c.1121C>T

1 paper

NM_001290043.2

p.A374D

c.1121C>A

1 paper

NM_001290043.2

p.R373C

c.1117C>T

1 paper

NM_001290043.2

p.R369T

c.1106G>C

13 papers

NM_001290043.2

p.V379I

c.1135G>A

1 paper

NM_001290043.2

p.W367R

c.1099T>C

1 paper

NM_001290043.2

p.W367R

c.1099T>A

1 paper

NM_001290043.2

p.E351*

c.1051G>T

1 paper

NM_001290043.2

p.E349K

c.1045G>A

1 paper

NM_001290043.2

p.V342fs

c.1024_1025fs

1 paper

NM_001290043.2

p.T341insFs

c.1022dupC

1 paper

NM_001290043.2

p.T341T

c.1023C>A