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.K652E

c.1954A>G

Surrounding Variants

2 papers

NM_004827.3

p.L651P

c.1952T>C

3 papers

NM_004827.3

p.K653E

c.1957A>G

2 papers

NM_004827.3

p.K653fs

c.1957_1958fs

1 paper

NM_004827.3

p.Y654H

c.1960T>C

1 paper

NM_004827.3

p.Y654fs

c.1960_1961fs

1 paper

NM_004827.3

p.L648F

c.1944G>T

1 paper

NM_004827.3

p.L648F

c.1944G>C

3 papers

NM_004827.3

p.K647E

c.1939A>G

1 paper

NM_004827.3

p.K647Q

c.1939A>C

2 papers

NM_004827.3

p.L646M

c.1936C>A

3 papers

NM_004827.3

p.Y645F

c.1934A>T

1 paper

NM_004827.3

p.Y645C

c.1934A>G