Varaico: Literature-Extracted Genetic Variants

Gene:PCNX1

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)
Pecanex_Caa 1782–2008UCSCPecanex protein (C-terminus)

Gene Aliases

HGNC Name

pecanex 1

HGNC Previous Symbol

PCNXL1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 72 variants
2 papers
NM_014982.3
p.R782C
c.2344C>T
2 papers
NM_014982.3
p.R2139W
c.6415C>T
1 paper
NM_014982.3
p.A16T
c.46G>A
1 paper
NM_014982.3
p.H35R
c.104A>G
1 paper
NM_014982.3
p.V60I
c.178G>A
1 paper
NM_014982.3
p.I67T
c.200T>C
1 paper
NM_014982.3
p.G88A
c.263G>C
1 paper
NM_014982.3
p.T99M
c.296C>T
1 paper
NM_014982.3
p.Q101*
c.301C>T
1 paper
NM_014982.3
p.S121Splc
c.363-2A>G
1 paper
NM_014982.3
p.D181N
c.541G>A
1 paper
NM_014982.3
p.R207Q
c.620G>A
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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."