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.D217Y

c.649G>T

Surrounding Variants

1 paper

NM_004827.3

p.S218*

c.653C>G

1 paper

NM_004827.3

p.S219G

c.655A>G

2 papers

NM_004827.3

p.T214T

c.642T>A

1 paper

NM_004827.3

p.T214S

c.641C>G

1 paper

NM_004827.3

p.T214S

c.640A>T

1 paper

NM_004827.3

p.T214A

c.640A>G

1 paper

NM_004827.3

p.T220R

c.659C>G

1 paper

NM_004827.3

p.T220T

c.660A>C

1 paper

NM_004827.3

p.P212H

c.635C>A

1 paper

NM_004827.3

p.N222S

c.665A>G

3 papers

NM_004827.3

p.E211V

c.632A>T

1 paper

NM_004827.3

p.E211G

c.632A>G