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.Y463F

c.1388A>T

Surrounding Variants

1 paper

NM_004827.3

p.G462V

c.1385G>T

1 paper

NM_004827.3

p.G462A

c.1385G>C

1 paper

NM_004827.3

p.Y464F

c.1391A>T

1 paper

NM_004827.3

p.G462*

c.1384G>T

5 papers

NM_004827.3

p.G462R

c.1384G>C

5 papers

NM_004827.3

p.G462R

c.1384G>A

1 paper

NM_004827.3

p.R465G

c.1393A>G

2 papers

NM_004827.3

p.Y459C

c.1376A>G

2 papers

NM_004827.3

p.Y459S

c.1376A>C

1 paper

NM_004827.3

p.E458D

c.1374A>T

1 paper

NM_004827.3

p.E458D

c.1374A>C

1 paper

NM_004827.3

p.Y469F

c.1406A>T