Varaico: Literature-Extracted Genetic Variants

Gene:PCNX2
Variant:p.N121S

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
2 papers
NM_014801.4
p.N121S
c.362A>G
Surrounding Variants
1 paper
NM_014801.4
p.E131E
c.393A>G
1 paper
NM_014801.4
p.R135Q
c.404G>A
2 papers
NM_014801.4
p.H154Y
c.460C>T
1 paper
NM_014801.4
p.H154P
c.461A>C
1 paper
NM_014801.4
p.R117T
c.350G>C
4 papers
NM_014801.4
p.R117K
c.350G>A
1 paper
NM_014801.4
p.D105A
c.314A>C
1 paper
NM_014801.4
p.K98T
c.293A>C
1 paper
NM_014801.4
p.I73V
c.217A>G
1 paper
NM_014801.4
p.A66S
c.196G>T
1 paper
NM_014801.4
p.N56D
c.166A>G
1 paper
NM_014801.4
p.L176V
c.526C>G
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