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.C438S

c.1312T>A

Surrounding Variants

4 papers

NM_004827.3

p.C438R

c.1312T>C

1 paper

NM_004827.3

p.C438S

c.1313G>C

2 papers

NM_004827.3

p.C438Y

c.1313G>A

2 papers

NM_004827.3

p.C438W

c.1314T>G

2 papers

NM_004827.3

p.Q437R

c.1310A>G

1 paper

NM_004827.3

p.F439Y

c.1316T>A

1 paper

NM_004827.3

p.N436K

c.1308C>G

1 paper

NM_004827.3

p.N436K

c.1308C>A

1 paper

NM_004827.3

p.F439L

c.1317C>G

1 paper

NM_004827.3

p.N436D

c.1306A>G

1 paper

NM_004827.3

p.T435S

c.1304C>G

1 paper

NM_004827.3

p.T435S

c.1303A>T