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

4 papers

NM_004827.3

p.F208L

c.622T>C

Surrounding Variants

41 papers

NM_004827.3

p.F208S

c.623T>C

1 paper

NM_004827.3

p.I206T

c.617T>C

3 papers

NM_004827.3

p.D210N

c.628G>A

1 paper

NM_004827.3

p.I206V

c.616A>G

31 papers

NM_004827.3

p.I206L

c.616A>C

1 paper

NM_004827.3

p.S205P

c.613T>C

23 papers

NM_004827.3

p.E211Q

c.631G>C

3 papers

NM_004827.3

p.E211V

c.632A>T

1 paper

NM_004827.3

p.E211G

c.632A>G

1 paper

NM_004827.3

p.D203E

c.609T>G

1 paper

NM_004827.3

p.D203E

c.609T>A

1 paper

NM_004827.3

p.P212H

c.635C>A