Varaico: Literature-Extracted Genetic Variants

Gene:CNPY3
Variant:p.S92Splc

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
2 papers
NM_006586.5
p.S92Splc
c.275+1G>A
Surrounding Variants
1 paper
NM_006586.5
p.S92L
c.275C>T
1 paper
NM_006586.5
p.T75M
c.224C>T
1 paper
NM_006586.5
p.G74_G76del3
c.220_227del9
1 paper
NM_006586.5
p.K68N
c.204G>T
1 paper
NM_006586.5
p.E65_G76del12
c.193_227del36
1 paper
NM_006586.5
p.L59L
c.177G>A
2 papers
NM_006586.5
p.C52Y
c.155G>A
1 paper
NM_006586.5
p.C52S
c.155G>C
1 paper
NM_006586.5
p.C52S
c.154T>A
1 paper
NM_006586.5
p.V51Splc
c.152-12T>G
1 paper
NM_006586.5
p.S92Splc
c.275+172T>C
1 paper
NM_006586.5
p.R95G
c.283C>G
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