Varaico: Literature-Extracted Genetic Variants

Gene:PCNX2
Variant:p.L266F

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.L266F
c.798A>C
Surrounding Variants
1 paper
NM_014801.4
p.L266F
c.798A>T
1 paper
NM_014801.4
p.F273F
c.819C>T
1 paper
NM_014801.4
p.W276L
c.827G>T
1 paper
NM_014801.4
p.E279K
c.835G>A
1 paper
NM_014801.4
p.E279G
c.836A>G
2 papers
NM_014801.4
p.R240C
c.718C>T
1 paper
NM_014801.4
p.R298Q
c.893G>A
1 paper
NM_014801.4
p.P217S
c.649C>T
1 paper
NM_014801.4
p.E324*
c.970G>T
1 paper
NM_014801.4
p.M204I
c.612G>T
1 paper
NM_014801.4
p.M204I
c.612G>C
1 paper
NM_014801.4
p.M204I
c.612G>A
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