Varaico: Literature-Extracted Genetic Variants

Gene:NCSTN
Variant:p.F240Y

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
1 paper
NM_015331.3
p.F240Y
c.719T>A
Surrounding Variants
1 paper
NM_015331.3
p.S241N
c.722G>A
1 paper
NM_015331.3
p.S238G
c.712A>G
2 papers
NM_015331.3
p.N243I
c.728A>T
1 paper
NM_015331.3
p.Q237L
c.710A>T
1 paper
NM_015331.3
p.R232Q
c.695G>A
1 paper
NM_015331.3
p.C230S
c.689G>C
1 paper
NM_015331.3
p.C230S
c.688T>A
2 papers
NM_015331.3
p.C230fs
c.688_689fs
2 papers
NM_015331.3
p.E245Splc
c.733+18C>G
1 paper
NM_015331.3
p.T229_C230insFs
c.687_688insC
11 papers
NM_015331.3
p.T229_C230insFs
c.687_688insCC
1 paper
NM_015331.3
p.A228_C230delFs
c.684_688del5
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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."