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

12 papers

NM_004827.3

p.S476P

c.1426T>C

Surrounding Variants

3 papers

NM_004827.3

p.L475L

c.1425A>G

2 papers

NM_004827.3

p.D477A

c.1430A>C

1 paper

NM_004827.3

p.D477E

c.1431T>G

1 paper

NM_004827.3

p.D477E

c.1431T>A

3 papers

NM_004827.3

p.K473E

c.1417A>G

2 papers

NM_004827.3

p.L479S

c.1436T>C

1 paper

NM_004827.3

p.G472V

c.1415G>T

2 papers

NM_004827.3

p.P480S

c.1438C>T

2 papers

NM_004827.3

p.P480A

c.1438C>G

7 papers

NM_004827.3

p.P480L

c.1439C>T

2 papers

NM_004827.3

p.R482W

c.1444A>T

102 papers

NM_004827.3

p.R482G

c.1444A>G