Varaico: Literature-Extracted Genetic Variants

Gene:NCSTN
Variant:p.Q163delFs

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
16 papers
NM_015331.3
p.Q163delFs
c.487delC
Surrounding Variants
1 paper
NM_015331.3
p.Q163fs
c.487_488fs
2 papers
NM_015331.3
p.I162fs
c.484_485fs
5 papers
NM_015331.3
p.E161delFs
c.482delA
1 paper
NM_015331.3
p.W164C
c.492G>C
14 papers
NM_015331.3
p.C159*
c.477C>A
1 paper
NM_015331.3
p.N165K
c.495T>A
1 paper
NM_015331.3
p.N165K
c.495T>G
11 papers
NM_015331.3
p.S166*
c.497C>A
1 paper
NM_015331.3
p.S166L
c.497C>T
1 paper
NM_015331.3
p.G168S
c.502G>A
1 paper
NM_015331.3
p.G168D
c.503G>A
1 paper
NM_015331.3
p.E155G
c.464A>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."