Varaico: Literature-Extracted Genetic Variants

Gene:ABCG2
Variant:p.K616E

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.K616E
c.1846A>G
Surrounding Variants
1 paper
NM_004827.3
p.Q617K
c.1849C>A
1 paper
NM_004827.3
p.L614W
c.1841T>G
1 paper
NM_004827.3
p.G618D
c.1853G>A
1 paper
NM_004827.3
p.E612D
c.1836A>T
1 paper
NM_004827.3
p.E612D
c.1836A>C
1 paper
NM_004827.3
p.E612*
c.1834G>T
44 papers
NM_004827.3
p.D620N
c.1858G>A
1 paper
NM_004827.3
p.E612K
c.1834G>A
1 paper
NM_004827.3
p.E611D
c.1833A>T
5 papers
NM_004827.3
p.D620G
c.1859A>G
1 paper
NM_004827.3
p.E611E
c.1833A>G
1 paper
NM_004827.3
p.E611D
c.1833A>C
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