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

16 papers

NM_004827.3

p.Q141*

c.421C>T

Surrounding Variants

1 paper

NM_004827.3

p.Q141fs

c.421_422fs

9 papers

NM_004827.3

p.Q141E

c.421C>G

1 paper

NM_004827.3

p.L140_Q141insFs

c.420_421insA

935 papers

NM_004827.3

p.Q141K

c.421C>A

2 papers

NM_004827.3

p.Q141L

c.422A>T

1 paper

NM_004827.3

p.L140V

c.418T>G

1 paper

NM_004827.3

p.N139N

c.417C>T

1 paper

NM_004827.3

p.F142F

c.426C>T

1 paper

NM_004827.3

p.N139S

c.416A>G

1 paper

NM_004827.3

p.S143P

c.427T>C

1 paper

NM_004827.3

p.F142del1

c.424_425delGAA

1 paper

NM_004827.3

p.E138D

c.414A>T