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.S25F

c.74C>T

Surrounding Variants

1 paper

NM_004827.3

p.A24_S25insFs

c.72_73insT

1 paper

NM_004827.3

p.S25P

c.73T>C

1 paper

NM_004827.3

p.A24V

c.71C>T

1 paper

NM_004827.3

p.A24insFs

c.71_72insT

2 papers

NM_004827.3

p.N26S

c.77A>G

1 paper

NM_004827.3

p.A24T

c.70G>A

1 paper

NM_004827.3

p.D27A

c.80A>C

1 paper

NM_004827.3

p.L28P

c.83T>C

4 papers

NM_004827.3

p.A22T

c.64G>A

1 paper

NM_004827.3

p.K29N

c.87G>T

1 paper

NM_004827.3

p.K29N

c.87G>C

1 paper

NM_004827.3

p.K29K

c.87G>A