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.A145A

c.435T>G

Surrounding Variants

3 papers

NM_004827.3

p.A145A

c.435T>A

1 paper

NM_004827.3

p.A145P

c.433G>C

1 paper

NM_004827.3

p.A145T

c.433G>A

15 papers

NM_004827.3

p.R147W

c.439C>T

1 paper

NM_004827.3

p.R147Q

c.440G>A

1 paper

NM_004827.3

p.F142del1

c.424_425delGAA

1 paper

NM_004827.3

p.S143P

c.427T>C

1 paper

NM_004827.3

p.F142F

c.426C>T

9 papers

NM_004827.3

p.A149P

c.445G>C

1 paper

NM_004827.3

p.A149T

c.445G>A

1 paper

NM_004827.3

p.A149A

c.447A>G

2 papers

NM_004827.3

p.T150S

c.448A>T