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

2 papers

NM_004827.3

p.S65L

c.194C>T

Surrounding Variants

1 paper

NM_004827.3

p.S65delins

c.193_194delinsAT

1 paper

NM_004827.3

p.L64delins

c.190_191delinsCA

1 paper

NM_004827.3

p.N66I

c.197A>T

7 papers

NM_004827.3

p.I63_N66delFs

c.187_197del11

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.I63insFs

c.188_189insA

1 paper

NM_004827.3

p.I67I

c.201C>T

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.N68D

c.202A>G

1 paper

NM_004827.3

p.K61delFs

c.183delT