Varaico: Literature-Extracted Genetic Variants

Gene:NCDN
Variant:p.L58_V59Splc

NCDN

62 papers

RefSeq Summary

This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates Ca/calmodulin-dependent protein kinase II phosphorylation and may be essentia...

Pfam Domains

Neurochondrinaa 30–637UCSCNeurochondrin

Gene Aliases

HGNC Name

neurochondrin

HGNC Alias Symbols

NCDN-1; NCDN-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014284.3
p.L58_V59Splc
c.175-29A>C
Surrounding Variants
1 paper
NM_014284.3
p.I68L
c.202A>T
1 paper
NM_014284.3
p.A70T
c.208G>A
1 paper
NM_014284.3
p.R75Q
c.224G>A
1 paper
NM_014284.3
p.F82S
c.245T>C
1 paper
NM_014284.3
p.P85S
c.253C>T
1 paper
NM_014284.3
p.D96Y
c.286G>T
1 paper
NM_014284.3
p.A112T
c.334G>A
1 paper
NM_014284.3
p.C115*
c.345C>A
1 paper
NM_014284.3
p.A121P
c.361G>C
1 paper
NM_014284.3
p.A121V
c.362C>T
1 paper
NM_014284.3
p.Q125delFs
c.373delC
1 paper
NM_014284.3
p.T138I
c.413C>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."