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.M1K

c.2T>A

Surrounding Variants

1 paper

NM_001290043.2

p.R2W

c.4C>T

1 paper

NM_001290043.2

p.R2R

c.4C>A

1 paper

NM_001290043.2

p.L3F

c.7C>T

1 paper

NM_001290043.2

p.R2insFs

c.5dupG

1 paper

NM_001290043.2

p.P8A

c.22C>G

1 paper

NM_001290043.2

p.P8L

c.23C>T

1 paper

NM_001290043.2

p.P8H

c.23C>A

1 paper

NM_001290043.2

p.L23F

c.67C>T

1 paper

NM_001290043.2

p.G25D

c.74G>A

1 paper

NM_001290043.2

p.W39*

c.116G>A

1 paper

NM_001290043.2

p.L40Q

c.119T>A

1 paper

NM_001290043.2

p.L49M

c.145C>A