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.A95E

c.284C>A

Surrounding Variants

2 papers

NM_004827.3

p.K97*

c.289A>T

1 paper

NM_004827.3

p.L93V

c.277T>G

1 paper

NM_004827.3

p.D98Y

c.292G>T

1 paper

NM_004827.3

p.V92D

c.275T>A

1 paper

NM_004827.3

p.D98D

c.294T>C

2 papers

NM_004827.3

p.V92I

c.274G>A

1 paper

NM_004827.3

p.D98_P99delFs

c.294_295delGA

1 paper

NM_004827.3

p.L90F

c.270A>T

1 paper

NM_004827.3

p.S100G

c.298A>G

1 paper

NM_004827.3

p.L89S

c.266T>C

1 paper

NM_004827.3

p.L102delins

c.304_305delinsCA

3 papers

NM_004827.3

p.S88L

c.263C>T