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.P623A

c.1867C>G

Surrounding Variants

1 paper

NM_004827.3

p.D620E

c.1860T>G

1 paper

NM_004827.3

p.D620E

c.1860T>A

2 papers

NM_004827.3

p.G625D

c.1874G>A

5 papers

NM_004827.3

p.D620G

c.1859A>G

44 papers

NM_004827.3

p.D620N

c.1858G>A

1 paper

NM_004827.3

p.G618D

c.1853G>A

1 paper

NM_004827.3

p.K628E

c.1882A>G

1 paper

NM_004827.3

p.Q617K

c.1849C>A

1 paper

NM_004827.3

p.N629H

c.1885A>C

1 paper

NM_004827.3

p.H630D

c.1888C>G

1 paper

NM_004827.3

p.K616E

c.1846A>G

1 paper

NM_004827.3

p.H630L

c.1889A>T