Varaico: Literature-Extracted Genetic Variants

TAP1

280 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 187–458UCSCABC transporter transmembrane region

ABC_tranaa 521–671UCSCABC transporter

Gene Aliases

HGNC Name

transporter 1, ATP binding cassette subfamily B member

HGNC Previous Symbol

ABCB2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000593.6

p.R378*

c.1132C>T

Surrounding Variants

1 paper

NM_000593.6

p.R378R

c.1134A>C

2 papers

NM_000593.6

p.A370V

c.1109C>T

1 paper

NM_000593.6

p.A370T

c.1108G>A

1 paper

NM_000593.6

p.K389E

c.1165A>G

1 paper

NM_000593.6

p.K389M

c.1166A>T

6 papers

NM_000593.6

p.K393E

c.1177A>G

1 paper

NM_000593.6

p.T399I

c.1196C>T

1 paper

NM_000593.6

p.L352insFs

c.1054dupC

1 paper

NM_000593.6

p.N411Y

c.1231A>T

1 paper

NM_000593.6

p.S412S

c.1236C>T

1 paper

NM_000593.6

p.Q350_L351Splc

c.1050+19C>T

1 paper

NM_000593.6

p.F339I

c.1015T>A