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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC66A2

Variant:p.A259V

SLC66A2

18q23 (UCSC)GTEx

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr18:79904016 G>A

NM_025078.5

p.A259V

c.776C>T

Exome: 0.0% (AC=48, hom=0)Genome: 0.0% (AC=3, hom=0)16 overlapping SVs

Surrounding Variants

chr18:79904131 A>T

NM_025078.5

p.F221I

c.661T>A

exact variant not in gnomAD16 overlapping SVs

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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."