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.L484_P485delFs

c.1452_1453delGT

Surrounding Variants

6 papers

NM_004827.3

p.P485A

c.1453C>G

1 paper

NM_004827.3

p.L484F

c.1452A>T

1 paper

NM_004827.3

p.L484F

c.1452A>C

1 paper

NM_004827.3

p.L484fs

c.1450_1451fs

2 papers

NM_004827.3

p.L484S

c.1451T>C

1 paper

NM_004827.3

p.S486I

c.1457G>T

3 papers

NM_004827.3

p.S486N

c.1457G>A

1 paper

NM_004827.3

p.S486S

c.1458T>C

1 paper

NM_004827.3

p.M483I

c.1449G>T

1 paper

NM_004827.3

p.M483I

c.1449G>C

1 paper

NM_004827.3

p.M483I

c.1449G>A

11 papers

NM_004827.3

p.R482S

c.1446G>T