Varaico: Literature-Extracted Genetic Variants

Gene:NCSTN
Variant:p.G332del1

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.G332del1
c.994_995delGGG
Surrounding Variants
1 paper
NM_015331.3
p.G332_E333Splc
c.996+1G>A
17 papers
NM_015331.3
p.G332_E333Splc
c.996+7G>A
1 paper
NM_015331.3
p.F327V
c.979T>G
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
7 papers
NM_015331.3
p.M326delFs
c.978delG
2 papers
NM_015331.3
p.M326fs
c.976_977fs
1 paper
NM_015331.3
p.R323H
c.968G>A
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
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