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.E60E

c.180G>A

Surrounding Variants

1 paper

NM_004827.3

p.E60*

c.178G>T

1 paper

NM_004827.3

p.K61N

c.183A>T

1 paper

NM_004827.3

p.K61N

c.183A>C

1 paper

NM_004827.3

p.K61fs

c.181_182fs

1 paper

NM_004827.3

p.K61delFs

c.183delT

1 paper

NM_004827.3

p.I63V

c.187A>G

2 papers

NM_004827.3

p.I63fs

c.187_188fs

1 paper

NM_004827.3

p.I63insFs

c.188_189insA

1 paper

NM_004827.3

p.P58T

c.172C>A

1 paper

NM_004827.3

p.I63I

c.189A>T

2 papers

NM_004827.3

p.I63fs

c.187_188fs

1 paper

NM_004827.3

p.L64delins

c.190_191delinsCA