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.H630R

c.1889A>G

Surrounding Variants

1 paper

NM_004827.3

p.H630L

c.1889A>T

1 paper

NM_004827.3

p.H630D

c.1888C>G

1 paper

NM_004827.3

p.V631M

c.1891G>A

1 paper

NM_004827.3

p.N629H

c.1885A>C

3 papers

NM_004827.3

p.A632T

c.1894G>A

3 papers

NM_004827.3

p.A632V

c.1895C>T

1 paper

NM_004827.3

p.A632G

c.1895C>G

1 paper

NM_004827.3

p.K628E

c.1882A>G

2 papers

NM_004827.3

p.A634V

c.1901C>T

1 paper

NM_004827.3

p.C635S

c.1903T>A

1 paper

NM_004827.3

p.C635S

c.1904G>C

2 papers

NM_004827.3

p.C635Y

c.1904G>A