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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PVALEF

PVALEF

17q25.3 (UCSC)GTEx

4 papers

Pfam Domains

EF-hand_7aa 57–126UCSCEF-hand domain pair

Gene Aliases

HGNC Name

parvalbumin like EF-hand containing

HGNC Previous Symbol

AATK-AS1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

chr17:81182003 A>G

NM_001354639.2

p.T94A

c.280A>G

Exome: 28.1% (AC=69117, hom=10578)Genome: 35.8% (AC=54386, hom=11500)7 overlapping SVs

chr17:81182063 G>A

NM_001354639.2

p.G114R

c.340G>A

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=21, hom=0)7 overlapping SVs

chr17:81182063 G>C

NM_001354639.2

p.G114R

c.340G>C

exact variant not in gnomAD7 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."