Varaico: Literature-Extracted Genetic Variants

Gene:NCSTN
Variant:p.W84_V85insT

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.W84_V85insT
c.250_254ins3
Surrounding Variants
2 papers
NM_015331.3
p.L82L
c.246A>T
2 papers
NM_015331.3
p.L86L
c.258G>A
1 paper
NM_015331.3
p.E79E
c.237G>A
3 papers
NM_015331.3
p.E77D
c.231G>C
3 papers
NM_015331.3
p.E77D
c.231G>T
7 papers
NM_015331.3
p.P93delFs
c.278delC
NM_001290184.2
p.P73delFs
c.218delC
1 paper
NM_015331.3
p.N91K
c.273C>A
1 paper
NM_015331.3
p.N91K
c.273C>G
2 papers
NM_015331.3
p.V76I
c.226G>A
2 papers
NM_015331.3
p.P93fs
c.277_278fs
NM_001290184.2
p.P73fs
c.217_218fs
20 papers
NM_015331.3
p.V75I
c.223G>A
1 paper
NM_015331.3
p.V75_V76delFs
c.224_227del4
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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."