Varaico: Literature-Extracted Genetic Variants

Gene:PCNX2
Variant:p.N1778D

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.N1778D
c.5332A>G
Surrounding Variants
1 paper
NM_014801.4
p.R1783Q
c.5348G>A
1 paper
NM_014801.4
p.A1787V
c.5360C>T
1 paper
NM_014801.4
p.P1801L
c.5402C>T
1 paper
NM_014801.4
p.G1804S
c.5410G>A
1 paper
NM_014801.4
p.G1826W
c.5476G>T
1 paper
NM_014801.4
p.Y1827fs
c.5479_5480fs
1 paper
NM_014801.4
p.H1842L
c.5525A>T
1 paper
NM_014801.4
p.P1852H
c.5555C>A
1 paper
NM_014801.4
p.K1773K
c.5319G>A
1 paper
NM_014801.4
p.R1876C
c.5626C>T
1 paper
NM_014801.4
p.D1758E
c.5274C>G
1 paper
NM_014801.4
p.D1758E
c.5274C>A
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