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.E611E

c.1833A>G

Surrounding Variants

1 paper

NM_004827.3

p.E611D

c.1833A>T

1 paper

NM_004827.3

p.E611D

c.1833A>C

1 paper

NM_004827.3

p.E612*

c.1834G>T

1 paper

NM_004827.3

p.E612K

c.1834G>A

2 papers

NM_004827.3

p.E611K

c.1831G>A

1 paper

NM_004827.3

p.E612D

c.1836A>T

1 paper

NM_004827.3

p.E612D

c.1836A>C

1 paper

NM_004827.3

p.L614W

c.1841T>G

1 paper

NM_004827.3

p.C608*

c.1824T>A

3 papers

NM_004827.3

p.C608S

c.1823G>C

7 papers

NM_004827.3

p.C608G

c.1822T>G

5 papers

NM_004827.3

p.C608R

c.1822T>C