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.L82L

c.244C>T

Surrounding Variants

1 paper

NM_001290043.2

p.L79P

c.236T>C

1 paper

NM_001290043.2

p.T76I

c.227C>T

3 papers

NM_001290043.2

p.L75fs

c.223_224fs

1 paper

NM_001290043.2

p.L75insFs

c.223dupC

4 papers

NM_001290043.2

p.L75delFs

c.223delG

1 paper

NM_001290043.2

p.L75fs

c.223_224fs

1 paper

NM_001290043.2

p.A92_R93insFs

c.276_277insC

1 paper

NM_001290043.2

p.A92delFs

c.276delG

1 paper

NM_001290043.2

p.A95_S96insFs

c.285_286insA

1 paper

NM_001290043.2

p.L65Q

c.194T>A

1 paper

NM_001290043.2

p.L65M

c.193C>A

1 paper

NM_001290043.2

p.T64T

c.192A>T