Varaico: Literature-Extracted Genetic Variants

Gene:NCSTN
Variant:p.K451Splc

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
15 papers
NM_015331.3
p.K451Splc
c.1352+1G>A
Surrounding Variants
2 papers
NM_015331.3
p.D443fs
c.1327_1328fs
1 paper
NM_015331.3
p.A442insFs
c.1325_1326ins16
1 paper
NM_015331.3
p.V439G
c.1316T>G
2 papers
NM_015331.3
p.V439I
c.1315G>A
2 papers
NM_015331.3
p.S437A
c.1309T>G
17 papers
NM_015331.3
p.R434*
c.1300C>T
4 papers
NM_015331.3
p.R432*
c.1294C>T
9 papers
NM_015331.3
p.R429*
c.1285C>T
1 paper
NM_015331.3
p.S425A
c.1273T>G
1 paper
NM_015331.3
p.Q420H
c.1260G>C
1 paper
NM_015331.3
p.Q420H
c.1260G>T
18 papers
NM_015331.3
p.Q420*
c.1258C>T
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