Varaico: Literature-Extracted Genetic Variants

Gene:NCSTN
Variant:p.V75I

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
20 papers
NM_015331.3
p.V75I
c.223G>A
Surrounding Variants
1 paper
NM_015331.3
p.V75_V76delFs
c.224_227del4
2 papers
NM_015331.3
p.V76I
c.226G>A
1 paper
NM_015331.3
p.I73V
c.217A>G
1 paper
NM_015331.3
p.I73fs
c.217_218fs
3 papers
NM_015331.3
p.E77D
c.231G>C
3 papers
NM_015331.3
p.E77D
c.231G>T
2 papers
NM_015331.3
p.V72fs
c.214_215fs
16 papers
NM_015331.3
p.T70_G71delFs
c.210_211delAG
1 paper
NM_015331.3
p.E79E
c.237G>A
1 paper
NM_015331.3
p.T70fs
c.208_209fs
2 papers
NM_015331.3
p.L82L
c.246A>T
3 papers
NM_015331.3
p.I66_S67insG
c.196_200ins3
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