Varaico: Literature-Extracted Genetic Variants

Gene:NECAB3
Variant:p.R118C

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.R118C
c.352C>T
Surrounding Variants
1 paper
NM_031232.4
p.A111G
c.332C>G
2 papers
NM_031232.4
p.D83G
c.248A>G
1 paper
NM_031232.4
p.G81S
c.241G>A
1 paper
NM_031232.4
p.E77Q
c.229G>C
1 paper
NM_031232.4
p.D49H
c.145G>C
1 paper
NM_031232.4
p.V44G
c.131T>G
1 paper
NM_031232.4
p.G37G
c.111A>G
1 paper
NM_031232.4
p.P21T
c.61C>A
1 paper
NM_031232.4
p.G189S
c.565G>A
1 paper
NM_031232.4
p.R191W
c.571C>T
1 paper
NM_031232.4
p.N229D
c.685A>G
1 paper
NM_031232.4
p.L231F
c.691C>T
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