Varaico: Literature-Extracted Genetic Variants

Gene:SLC66A2

SLC66A2

17 papers

Pfam Domains

PQ-loopaa 17–77UCSCPQ loop repeat
PQ-loopaa 170–230UCSCPQ loop repeat

Gene Aliases

HGNC Name

solute carrier family 66 member 2

HGNC Previous Symbol

PQLC1

Papers
RefSeq ID
Protein change
DNA change
2 papers
NM_025078.5
p.R109C
c.325C>T
1 paper
NM_025078.5
p.V26A
c.77T>C
1 paper
NM_025078.5
p.G70E
c.209G>A
1 paper
NM_025078.5
p.R71K
c.212G>A
1 paper
NM_025078.5
p.Q80R
c.239A>G
1 paper
NM_025078.5
p.R109L
c.326G>T
1 paper
NM_025078.5
p.A113P
c.337G>C
1 paper
NM_025078.5
p.A113V
c.338C>T
1 paper
NM_025078.5
p.V150V
c.450C>T
1 paper
NM_025078.5
p.A168T
c.502G>A
1 paper
NM_025078.5
p.F221I
c.661T>A
1 paper
NM_025078.5
p.A259V
c.776C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."