Varaico: Literature-Extracted Genetic Variants

Gene:CNPY3
Variant:p.S231I

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
5 papers
NM_006586.5
p.S231I
c.692G>T
Surrounding Variants
4 papers
NM_006586.5
p.K234_S240insFs
c.702_720dup19
1 paper
NM_006586.5
p.K224delFs
c.671_672delAG
2 papers
NM_006586.5
p.S241fs
c.721_722fs
1 paper
NM_006586.5
p.S212S
c.636C>T
1 paper
NM_006586.5
p.S205Splc
c.614-8C>T
1 paper
NM_006586.5
p.P269T
c.805C>A
1 paper
NM_006586.5
p.P275T
c.823C>A
1 paper
NM_006586.5
p.P275H
c.824C>A
1 paper
NM_006586.5
p.P275L
c.824C>T
1 paper
NM_006586.5
p.L278delFs
c.834delC
1 paper
NM_006586.5
p.C194S
c.581G>C
1 paper
NM_006586.5
p.C194S
c.580T>A
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