Varaico: Literature-Extracted Genetic Variants

Gene:PCNX2
Variant:p.V1003A

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
3 papers
NM_014801.4
p.V1003A
c.3008T>C
Surrounding Variants
1 paper
NM_014801.4
p.S1006S
c.3018C>T
1 paper
NM_014801.4
p.H1014N
c.3040C>A
2 papers
NM_014801.4
p.C1017W
c.3051C>G
1 paper
NM_014801.4
p.G967G
c.2901G>C
1 paper
NM_014801.4
p.L966F
c.2896C>T
1 paper
NM_014801.4
p.V955Splc
c.2864-3417T>C
1 paper
NM_014801.4
p.S948A
c.2842T>G
1 paper
NM_014801.4
p.L919F
c.2757G>T
1 paper
NM_014801.4
p.L919F
c.2757G>C
1 paper
NM_014801.4
p.I902L
c.2704A>C
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