Varaico: Literature-Extracted Genetic Variants

Gene:PCNX2
Variant:p.K480R

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.K480R
c.1439A>G
Surrounding Variants
1 paper
NM_014801.4
p.G476*
c.1426G>T
2 papers
NM_014801.4
p.T454A
c.1360A>G
1 paper
NM_014801.4
p.E452*
c.1354G>T
2 papers
NM_014801.4
p.E447K
c.1339G>A
1 paper
NM_014801.4
p.A423delFs
c.1269delG
1 paper
NM_014801.4
p.E424fs
c.1270_1271fs
1 paper
NM_014801.4
p.A423A
c.1269C>T
1 paper
NM_014801.4
p.A417V
c.1250C>T
1 paper
NM_014801.4
p.P415delFs
c.1245delT
1 paper
NM_014801.4
p.A410T
c.1228G>A
1 paper
NM_014801.4
p.S393F
c.1178C>T
1 paper
NM_014801.4
p.M387V
c.1159A>G
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