Varaico: Literature-Extracted Genetic Variants

Gene:NCSTN
Variant:p.Q367fs

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.Q367fs
c.1099_1100fs
Surrounding Variants
1 paper
NM_015331.3
p.Q367del1
c.1099_1100delCAG
16 papers
NM_015331.3
p.Q367_V368Splc
c.1101+1G>A
13 papers
NM_015331.3
p.Q367_V368Splc
c.1101+10A>G
1 paper
NM_015331.3
p.D360A
c.1079A>C
1 paper
NM_015331.3
p.E357G
c.1070A>G
1 paper
NM_015331.3
p.V354M
c.1060G>A
1 paper
NM_015331.3
p.K349E
c.1045A>G
1 paper
NM_015331.3
p.Y345C
c.1034A>G
12 papers
NM_015331.3
p.V344_K351del8
c.1030_1052del24
1 paper
NM_015331.3
p.S341W
c.1022C>G
2 papers
NM_015331.3
p.G339A
c.1016G>C
10 papers
NM_015331.3
p.D336A
c.1007A>C
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