Varaico: Literature-Extracted Genetic Variants

Gene:NCDN
Variant:p.E433Q

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
4 papers
NM_014284.3
p.E433Q
c.1297G>C
Surrounding Variants
1 paper
NM_014284.3
p.E433K
c.1297G>A
1 paper
NM_014284.3
p.L428I
c.1282C>A
1 paper
NM_014284.3
p.T450I
c.1349C>T
1 paper
NM_014284.3
p.V414M
c.1240G>A
1 paper
NM_014284.3
p.R411H
c.1232G>A
1 paper
NM_014284.3
p.A460T
c.1378G>A
1 paper
NM_014284.3
p.R462W
c.1384C>T
1 paper
NM_014284.3
p.W402*
c.1206G>A
1 paper
NM_014284.3
p.W402*
c.1205G>A
1 paper
NM_014284.3
p.V392E
c.1175T>A
1 paper
NM_014284.3
p.V392L
c.1174G>C
1 paper
NM_014284.3
p.V392L
c.1174G>T
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