Varaico: Literature-Extracted Genetic Variants

Gene:NCSTN
Variant:p.L212L

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
3 papers
NM_015331.3
p.L212L
c.636A>G
Surrounding Variants
1 paper
NM_015331.3
p.C213S
c.637T>A
1 paper
NM_015331.3
p.C213S
c.638G>C
22 papers
NM_015331.3
p.P211R
c.632C>G
1 paper
NM_015331.3
p.F210_P211del2
c.628_632del6
20 papers
NM_015331.3
p.Q216P
c.647A>C
2 papers
NM_015331.3
p.A207A
c.621A>G
10 papers
NM_015331.3
p.S206*
c.617C>A
8 papers
NM_015331.3
p.S206*
c.617C>G
1 paper
NM_015331.3
p.H220Y
c.658C>T
1 paper
NM_015331.3
p.H220fs
c.658_659fs
1 paper
NM_015331.3
p.H220_M221delFs
c.659_662del4
1 paper
NM_015331.3
p.G205D
c.614G>A
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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."