Varaico: Literature-Extracted Genetic Variants

Gene:PCNX2
Variant:p.R826*

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.R826*
c.2476C>T
Surrounding Variants
1 paper
NM_014801.4
p.A831V
c.2492C>T
1 paper
NM_014801.4
p.D834G
c.2501A>G
2 papers
NM_014801.4
p.A845V
c.2534C>T
1 paper
NM_014801.4
p.L860F
c.2580G>T
1 paper
NM_014801.4
p.L860F
c.2580G>C
1 paper
NM_014801.4
p.A893T
c.2677G>A
1 paper
NM_014801.4
p.R786Q
c.2357G>A
1 paper
NM_014801.4
p.L768F
c.2302C>T
1 paper
NM_014801.4
p.S759F
c.2276C>T
1 paper
NM_014801.4
p.S749N
c.2246G>A
1 paper
NM_014801.4
p.R741Q
c.2222G>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."