Varaico: Literature-Extracted Genetic Variants

Gene:NCSTN
Variant:p.V299insFs

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.V299insFs
c.896_897dupTG
Surrounding Variants
1 paper
NM_015331.3
p.A300fs
c.898_899fs
11 papers
NM_015331.3
p.E296G
c.887A>G
1 paper
NM_015331.3
p.Q305E
c.913C>G
1 paper
NM_015331.3
p.A308S
c.922G>T
1 paper
NM_015331.3
p.F287S
c.860T>C
1 paper
NM_015331.3
p.S286F
c.857C>T
1 paper
NM_015331.3
p.D283N
c.847G>A
1 paper
NM_015331.3
p.L282P
c.845T>C
2 papers
NM_015331.3
p.L282R
c.845T>G
1 paper
NM_015331.3
p.L282V
c.844C>G
12 papers
NM_015331.3
p.A315V
c.944C>T
1 paper
NM_015331.3
p.L321fs
c.961_962fs
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