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

32 papers

NM_004827.3

p.F431L

c.1291T>C

Surrounding Variants

2 papers

NM_004827.3

p.F431S

c.1292T>C

1 paper

NM_004827.3

p.F431Y

c.1292T>A

1 paper

NM_004827.3

p.L430insFs

c.1289_1290insGG

28 papers

NM_004827.3

p.F431L

c.1293C>G

28 papers

NM_004827.3

p.F431L

c.1293C>A

1 paper

NM_004827.3

p.F432L

c.1294T>C

1 paper

NM_004827.3

p.F432Y

c.1295T>A

1 paper

NM_004827.3

p.V429G

c.1286T>G

1 paper

NM_004827.3

p.F432L

c.1296C>G

1 paper

NM_004827.3

p.F432L

c.1296C>A

3 papers

NM_004827.3

p.L433L

c.1299G>T

1 paper

NM_004827.3

p.G428V

c.1283G>T