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.A207V

c.620C>T

Surrounding Variants

1 paper

NM_001290043.2

p.R210*

c.628C>T

1 paper

NM_001290043.2

p.C213delFs

c.639delG

1 paper

NM_001290043.2

p.M218T

c.653T>C

1 paper

NM_001290043.2

p.M218K

c.653T>A

1 paper

NM_001290043.2

p.R220*

c.658C>T

1 paper

NM_001290043.2

p.R220R

c.660A>G

4 papers

NM_001290043.2

p.N222I

c.665A>T

1 paper

NM_001290043.2

p.N222S

c.665A>G

1 paper

NM_001290043.2

p.R224R

c.672G>A

1 paper

NM_001290043.2

p.L233L

c.699G>A

1 paper

NM_001290043.2

p.L234Q

c.701T>A

1 paper

NM_001290043.2

p.R235C

c.703C>T