Varaico: Literature-Extracted Genetic Variants

ABCG2

1,459 papers

RefSeq Summary

The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellula...

Pfam Domains

ABC_tranaa 64–214UCSCABC transporter

ABC2_membrane_7aa 243–319UCSCABC-2 type transporter

ABC2_membraneaa 375–586UCSCABC-2 type transporter

Gene Aliases

HGNC Name

ATP binding cassette subfamily G member 2

HGNC Alias Symbols

EST157481; MXR; ABCP; CD338

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_004827.3

p.V450I

c.1348G>A

Surrounding Variants

1 paper

NM_004827.3

p.V449A

c.1346T>C

1 paper

NM_004827.3

p.E451A

c.1352A>C

2 papers

NM_004827.3

p.F448Y

c.1343T>A

2 papers

NM_004827.3

p.E451D

c.1353G>T

2 papers

NM_004827.3

p.E451D

c.1353G>C

1 paper

NM_004827.3

p.K452E

c.1354A>G

1 paper

NM_004827.3

p.K452Q

c.1354A>C

1 paper

NM_004827.3

p.K452R

c.1355A>G

1 paper

NM_004827.3

p.L447P

c.1340T>C

1 paper

NM_004827.3

p.L447H

c.1340T>A

1 paper

NM_004827.3

p.L447V

c.1339C>G

1 paper

NM_004827.3

p.K453E

c.1357A>G