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

2 papers

NM_004827.3

p.P480A

c.1438C>G

Surrounding Variants

2 papers

NM_004827.3

p.P480S

c.1438C>T

7 papers

NM_004827.3

p.P480L

c.1439C>T

2 papers

NM_004827.3

p.L479S

c.1436T>C

2 papers

NM_004827.3

p.R482W

c.1444A>T

102 papers

NM_004827.3

p.R482G

c.1444A>G

1 paper

NM_004827.3

p.D477E

c.1431T>G

1 paper

NM_004827.3

p.D477E

c.1431T>A

9 papers

NM_004827.3

p.R482M

c.1445G>T

75 papers

NM_004827.3

p.R482T

c.1445G>C

5 papers

NM_004827.3

p.R482K

c.1445G>A

11 papers

NM_004827.3

p.R482S

c.1446G>T

11 papers

NM_004827.3

p.R482S

c.1446G>C