Varaico: Literature-Extracted Genetic Variants

Gene:NECAB3
Variant:p.N229D

NECAB3

28 papers

RefSeq Summary

The protein encoded by this gene interacts with the amino-terminal domain of the neuron-specific X11-like protein (X11L), inhibits the association of X11L with amyloid precursor protein through a non-...

Pfam Domains

EF-hand_5aa 41–66UCSCEF hand
ABMaa 295–370UCSCAntibiotic biosynthesis monooxygenase

Gene Aliases

HGNC Name

N-terminal EF-hand calcium binding protein 3

HGNC Previous Symbols

SYTIP2; APBA2BP

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_031232.4
p.N229D
c.685A>G
Surrounding Variants
1 paper
NM_031232.4
p.L231F
c.691C>T
1 paper
NM_031232.4
p.G268D
c.803G>A
1 paper
NM_031232.4
p.R191W
c.571C>T
1 paper
NM_031232.4
p.G189S
c.565G>A
2 papers
NM_031232.4
p.R317C
c.949C>T
1 paper
NM_031232.4
p.S327N
c.980G>A
1 paper
NM_031232.4
p.R376W
c.1126C>T
1 paper
NM_031232.4
p.W390*
c.1169G>A
1 paper
NM_031232.4
p.W390*
c.1170G>A
1 paper
NM_031232.4
p.R118C
c.352C>T
1 paper
NM_031232.4
p.A111G
c.332C>G
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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."