Varaico: Literature-Extracted Genetic Variants

Gene:PCNX2
Variant:p.E1554E

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.E1554E
c.4662A>G
Surrounding Variants
1 paper
NM_014801.4
p.E1554K
c.4660G>A
1 paper
NM_014801.4
p.R1571H
c.4712G>A
1 paper
NM_014801.4
p.R1593*
c.4777C>T
3 papers
NM_014801.4
p.R1609W
c.4825C>T
1 paper
NM_014801.4
p.E1613_P1614Splc
c.4839+1023A>T
1 paper
NM_014801.4
p.D1621D
c.4863C>T
1 paper
NM_014801.4
p.A1632A
c.4896C>T
1 paper
NM_014801.4
p.S1651Splc
c.4952+14G>A
1 paper
NM_014801.4
p.I1528I
c.4584C>T
1 paper
NM_014801.4
p.M1519I
c.4557G>T
1 paper
NM_014801.4
p.M1519I
c.4557G>C
1 paper
NM_014801.4
p.M1519I
c.4557G>A
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