Varaico: Literature-Extracted Genetic Variants

Gene:PCNX2
Variant:p.M1154L

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
Selected Variant
1 paper
NM_014801.4
p.M1154L
c.3460A>C
Surrounding Variants
1 paper
NM_014801.4
p.M1154L
c.3460A>T
2 papers
NM_014801.4
p.R1148H
c.3443G>A
1 paper
NM_014801.4
p.N1163fs
c.3487_3488fs
1 paper
NM_014801.4
p.T1140A
c.3418A>G
7 papers
NM_014801.4
p.R1169W
c.3505C>T
1 paper
NM_014801.4
p.I1100I
c.3300C>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."