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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCNX1

Variant:p.A16T

PCNX1

14q24.2 (UCSC)OMIM GTEx

54 papers

RefSeq Summary

This gene encodes an evolutionarily conserved transmembrane protein similar to the pecanex protein in Drosophila. The fly protein is a component of the Notch signaling pathway, which functions in seve...

Pfam Domains

Pecanex_Caa 1782–2008UCSCPecanex protein (C-terminus)

Pecanex_Caa 1782–2008UCSCPecanex protein (C-terminus)

Gene Aliases

HGNC Name

pecanex 1

HGNC Previous Symbol

PCNXL1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

chr14:70907896 G>A

NM_014982.3

p.A16T

c.46G>A

Exome: 0.0% (AC=43, hom=0)Genome: 0.0% (AC=4, hom=0)19 overlapping SVs

Surrounding Variants

chr14:70907954 A>G

NM_014982.3

p.H35R

c.104A>G

exact variant not in gnomAD19 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."