Varaico: Literature-Extracted Genetic Variants

Gene:NCDN
Variant:p.R478Q

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.R478Q
c.1433G>A
Surrounding Variants
1 paper
NM_014284.3
p.R478W
c.1432C>T
1 paper
NM_014284.3
p.I480S
c.1439T>G
1 paper
NM_014284.3
p.I480I
c.1440C>T
1 paper
NM_014284.3
p.V473I
c.1417G>A
1 paper
NM_014284.3
p.A486_C491delFs
c.1458_1473del16
1 paper
NM_014284.3
p.L463L
c.1389C>T
1 paper
NM_014284.3
p.W498R
c.1492T>A
2 papers
NM_014284.3
p.W498R
c.1492T>C
1 paper
NM_014284.3
p.P503A
c.1507C>G
1 paper
NM_014284.3
p.D512_V514insFs
c.1534_1541dup8
1 paper
NM_014284.3
p.L528F
c.1582C>T
1 paper
NM_014284.3
p.R538C
c.1612C>T
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