Varaico: Literature-Extracted Genetic Variants

Gene:NCSTN
Variant:p.R117*

NCSTN

308 papers

RefSeq Summary

This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch r...

Pfam Domains

Ncstrn_smallaa 49–218UCSCNicastrin small lobe
Nicastrinaa 190–361UCSCNicastrin large lobe

Gene Aliases

HGNC Name

nicastrin

HGNC Alias Symbols

KIAA0253; APH2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
21 papers
NM_015331.3
p.R117*
c.349C>T
Surrounding Variants
6 papers
NM_015331.3
p.T115N
c.344C>A
1 paper
NM_015331.3
p.T115fs
c.343_344fs
1 paper
NM_015331.3
p.T115fs
c.343_344fs
13 papers
NM_015331.3
p.T115_R117delFs
c.344_351del8
2 papers
NM_015331.3
p.G113G
c.339G>A
1 paper
NM_015331.3
p.G113fs
c.337_338fs
1 paper
NM_015331.3
p.G113delFs
c.338_339delGG
2 papers
NM_015331.3
p.L125L
c.375G>A
1 paper
NM_015331.3
p.K127N
c.381G>C
1 paper
NM_015331.3
p.K127N
c.381G>T
1 paper
NM_015331.3
p.A131V
c.392C>T
1 paper
NM_015331.3
p.V138L
c.412G>C
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