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.G189delFs

c.565_566delCC

Surrounding Variants

1 paper

NM_004827.3

p.E190*

c.568G>T

1 paper

NM_004827.3

p.E190D

c.570A>T

2 papers

NM_004827.3

p.G188G

c.564A>G

2 papers

NM_004827.3

p.G188E

c.563G>A

1 paper

NM_004827.3

p.R191S

c.573A>T

1 paper

NM_004827.3

p.R191S

c.573A>C

1 paper

NM_004827.3

p.K192E

c.574A>G

2 papers

NM_004827.3

p.S187A

c.559T>G

3 papers

NM_004827.3

p.S187T

c.559T>A

1 paper

NM_004827.3

p.V186A

c.557T>C

1 paper

NM_004827.3

p.R193K

c.578G>A

5 papers

NM_004827.3

p.G185V

c.554G>T