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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCNX1

Variant:p.G88A

PCNX1

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)

Gene Aliases

HGNC Name

pecanex 1

HGNC Previous Symbol

PCNXL1

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

Selected Variant

1 paper

chr14:70947024 G>C

NM_014982.3

p.G88A

c.263G>C

exact variant not in gnomAD16 overlapping SVs

Surrounding Variants

1 paper

chr14:70947057 C>T

NM_014982.3

p.T99M

c.296C>T

Exome: 0.0% (AC=9, hom=0)Genome: 0.0% (AC=2, hom=0)16 overlapping SVs

1 paper

chr14:70947062 C>T

NM_014982.3

p.Q101*

c.301C>T

exact variant not in gnomAD16 overlapping SVs

1 paper

chr14:70946961 T>C

NM_014982.3

p.I67T

c.200T>C

Exome: 0.0% (AC=1, hom=0)Genome: n/a16 overlapping SVs

1 paper

chr14:70946939 G>A

NM_014982.3

p.V60I

c.178G>A

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)16 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."