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

2 papers

NM_004827.3

p.Y494H

c.1480T>C

Surrounding Variants

1 paper

NM_004827.3

p.V493A

c.1478T>C

1 paper

NM_004827.3

p.F495F

c.1485C>T

2 papers

NM_004827.3

p.M496K

c.1487T>A

1 paper

NM_004827.3

p.C491S

c.1472G>C

1 paper

NM_004827.3

p.C491S

c.1471T>A

1 paper

NM_004827.3

p.T490A

c.1468A>G

38 papers

NM_004827.3

p.F489L

c.1467T>G

38 papers

NM_004827.3

p.F489L

c.1467T>A

1 paper

NM_004827.3

p.G498Splc

c.1492+2T>C

40 papers

NM_004827.3

p.F489L

c.1465T>C

1 paper

NM_004827.3

p.S486S

c.1458T>C

1 paper

NM_004827.3

p.S486I

c.1457G>T