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

1 paper

NM_000593.6

p.M1insFs

c.1_2insT

Surrounding Variants

1 paper

NM_000593.6

p.M1V

c.1A>G

1 paper

NM_000593.6

p.M1L

c.1A>C

1 paper

NM_000593.6

p.M1_A2insT

c.1_5ins3

2 papers

NM_000593.6

p.M1T

c.2T>C

1 paper

NM_000593.6

p.M1K

c.2T>A

2 papers

NM_000593.6

p.M1I

c.3G>T

1 paper

NM_000593.6

p.M1insFs

c.2_3insT

1 paper

NM_000593.6

p.M1I

c.3G>C

2 papers

NM_000593.6

p.M1I

c.3G>A

1 paper

NM_000593.6

p.A2T

c.4G>A

1 paper

NM_000593.6

p.C6S

c.16T>A

1 paper

NM_000593.6

p.C6S

c.17G>C