Varaico: Literature-Extracted Genetic Variants

Gene:CNPY3
Variant:p.C194S

CNPY3

50 papers

RefSeq Summary

This gene encodes a protein that binds members of the toll-like receptor protein family and functions as a chaperone to aid in folding and export of these proteins. Alternative splicing results in mul...

Pfam Domains

DUF3456aa 48–206UCSCTLR4 regulator and MIR-interacting MSAP

Gene Aliases

HGNC Name

canopy FGF signaling regulator 3

HGNC Previous Symbol

TNRC5

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006586.5
p.C194S
c.581G>C
Surrounding Variants
1 paper
NM_006586.5
p.C194S
c.580T>A
1 paper
NM_006586.5
p.N183fs
c.547_548fs
3 papers
NM_006586.5
p.N183delFs
c.548delA
1 paper
NM_006586.5
p.I177I
c.531C>T
1 paper
NM_006586.5
p.E174E
c.522G>A
1 paper
NM_006586.5
p.F173S
c.518T>C
1 paper
NM_006586.5
p.C166fs
c.496_497fs
2 papers
NM_006586.5
p.Q165_C166Splc
c.496-2A>C
2 papers
NM_006586.5
p.Q165_C166Splc
c.495+1G>A
1 paper
NM_006586.5
p.Q165P
c.494A>C
1 paper
NM_006586.5
p.S205Splc
c.614-8C>T
1 paper
NM_006586.5
p.P148S
c.442C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."