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

47 papers

NM_004827.3

p.S441N

c.1322G>A

Surrounding Variants

1 paper

NM_004827.3

p.S443A

c.1327T>G

1 paper

NM_004827.3

p.F439L

c.1317C>G

1 paper

NM_004827.3

p.F439Y

c.1316T>A

2 papers

NM_004827.3

p.C438W

c.1314T>G

1 paper

NM_004827.3

p.C438S

c.1313G>C

2 papers

NM_004827.3

p.C438Y

c.1313G>A

4 papers

NM_004827.3

p.C438R

c.1312T>C

1 paper

NM_004827.3

p.C438S

c.1312T>A

1 paper

NM_004827.3

p.Q437_S440delFs

c.1309_1319del11

2 papers

NM_004827.3

p.Q437R

c.1310A>G

1 paper

NM_004827.3

p.E446*

c.1336G>T

1 paper

NM_004827.3

p.E446Q

c.1336G>C