Varaico: Literature-Extracted Genetic Variants

Gene:NCSTN
Variant:p.R323H

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.R323H
c.968G>A
Surrounding Variants
1 paper
NM_015331.3
p.R323C
c.967C>T
1 paper
NM_015331.3
p.P322L
c.965C>T
1 paper
NM_015331.3
p.P322S
c.964C>T
1 paper
NM_015331.3
p.L321fs
c.961_962fs
1 paper
NM_015331.3
p.L321delFs
c.962_963delTG
2 papers
NM_015331.3
p.M326fs
c.976_977fs
7 papers
NM_015331.3
p.M326delFs
c.978delG
1 paper
NM_015331.3
p.M326I
c.978G>A
1 paper
NM_015331.3
p.M326I
c.978G>C
1 paper
NM_015331.3
p.M326I
c.978G>T
1 paper
NM_015331.3
p.F327V
c.979T>G
12 papers
NM_015331.3
p.A315V
c.944C>T
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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."