Varaico: Literature-Extracted Genetic Variants

Gene:NCSTN
Variant:p.Y345C

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.Y345C
c.1034A>G
Surrounding Variants
12 papers
NM_015331.3
p.V344_K351del8
c.1030_1052del24
1 paper
NM_015331.3
p.K349E
c.1045A>G
1 paper
NM_015331.3
p.S341W
c.1022C>G
2 papers
NM_015331.3
p.G339A
c.1016G>C
1 paper
NM_015331.3
p.V354M
c.1060G>A
10 papers
NM_015331.3
p.D336A
c.1007A>C
1 paper
NM_015331.3
p.T334_F335delFs
c.1002_1003delTT
1 paper
NM_015331.3
p.T334fs
c.1000_1001fs
1 paper
NM_015331.3
p.T334A
c.1000A>G
1 paper
NM_015331.3
p.E333D
c.999A>C
1 paper
NM_015331.3
p.E333D
c.999A>T
4 papers
NM_015331.3
p.E333A
c.998A>C
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