Varaico: Literature-Extracted Genetic Variants

Gene:NCDN
Variant:p.P652L

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
3 papers
NM_014284.3
p.P652L
c.1955C>T
Surrounding Variants
1 paper
NM_014284.3
p.Q642_C647delFs
c.1926_1941del16
1 paper
NM_014284.3
p.Q669fs
c.2005_2006fs
1 paper
NM_014284.3
p.P681T
c.2041C>A
1 paper
NM_014284.3
p.A621S
c.1861G>T
1 paper
NM_014284.3
p.G689C
c.2065G>T
1 paper
NM_014284.3
p.P613L
c.1838C>T
1 paper
NM_014284.3
p.A695V
c.2084C>T
1 paper
NM_014284.3
p.A697T
c.2089G>A
1 paper
NM_014284.3
p.S606F
c.1817C>T
1 paper
NM_014284.3
p.R699W
c.2095C>T
1 paper
NM_014284.3
p.A709E
c.2126C>A
1 paper
NM_014284.3
p.G710G
c.2130C>T
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