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.E138D

c.414A>T

Surrounding Variants

1 paper

NM_004827.3

p.E138D

c.414A>C

1 paper

NM_004827.3

p.E138insFs

c.412dupG

1 paper

NM_004827.3

p.E138*

c.412G>T

1 paper

NM_004827.3

p.E138K

c.412G>A

1 paper

NM_004827.3

p.N139S

c.416A>G

1 paper

NM_004827.3

p.N139N

c.417C>T

1 paper

NM_004827.3

p.L140V

c.418T>G

4 papers

NM_004827.3

p.R137K

c.410G>A

1 paper

NM_004827.3

p.Q141fs

c.421_422fs

16 papers

NM_004827.3

p.Q141*

c.421C>T

9 papers

NM_004827.3

p.Q141E

c.421C>G

1 paper

NM_004827.3

p.L140_Q141insFs

c.420_421insA