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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCP4

Variant:p.A7V

PCP4

21q22.2 (UCSC)OMIM GTEx

10 papers

Gene Aliases

HGNC Name

Purkinje cell protein 4

HGNC Alias Symbol

PEP-19

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr21:39898486 C>T

NM_006198.3

p.A7V

c.20C>T

exact variant not in gnomAD5 overlapping SVs

Surrounding Variants

chr21:39896888 G>A

NM_006198.3

p.E3_R4Splc

c.10-1588G>A

Exome: n/aGenome: 0.0% (AC=8, hom=0)6 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."