Varaico: Literature-Extracted Genetic Variants

Gene:PCNX2

PCNX2

140 papers

RefSeq Summary

This gene contains coding mononucleotide repeats that are associated with tumors of high mcrosatellite instability (MSI-H). Defects in this gene are involved in the tumorigenesis of MSI-H colorectal c...

Pfam Domains

Pecanex_Caa 1619–1844UCSCPecanex protein (C-terminus)

Gene Aliases

HGNC Name

pecanex 2

HGNC Previous Symbol

PCNXL2

Papers
RefSeq ID
Protein change
DNA change
1–12 of 176 variants
7 papers
NM_014801.4
p.R1169W
c.3505C>T
5 papers
NM_014801.4
p.S1901N
c.5702G>A
4 papers
NM_014801.4
p.R117K
c.350G>A
3 papers
NM_014801.4
p.V1003A
c.3008T>C
3 papers
NM_014801.4
p.C1474*
c.4422C>A
3 papers
NM_014801.4
p.R1609W
c.4825C>T
3 papers
NM_014801.4
p.T1969M
c.5906C>T
3 papers
NM_014801.4
p.A1989T
c.5965G>A
2 papers
NM_014801.4
p.N121S
c.362A>G
2 papers
NM_014801.4
p.H154Y
c.460C>T
2 papers
NM_014801.4
p.R240C
c.718C>T
2 papers
NM_014801.4
p.E447K
c.1339G>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."