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.I639M

c.1917T>G

Surrounding Variants

1 paper

NM_004827.3

p.V638V

c.1914T>A

2 papers

NM_004827.3

p.T642A

c.1924A>G

2 papers

NM_004827.3

p.T642K

c.1925C>A

1 paper

NM_004827.3

p.I643V

c.1927A>G

1 paper

NM_004827.3

p.C635S

c.1904G>C

2 papers

NM_004827.3

p.C635Y

c.1904G>A

1 paper

NM_004827.3

p.C635S

c.1903T>A

2 papers

NM_004827.3

p.A634V

c.1901C>T

3 papers

NM_004827.3

p.Y645F

c.1934A>T

1 paper

NM_004827.3

p.Y645C

c.1934A>G

2 papers

NM_004827.3

p.Y645S

c.1934A>C

2 papers

NM_004827.3

p.L646M

c.1936C>A