Varaico: Literature-Extracted Genetic Variants

Gene:NCSTN
Variant:p.D185N

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
18 papers
NM_015331.3
p.D185N
c.553G>A
Surrounding Variants
1 paper
NM_015331.3
p.D185delFs
c.554delA
1 paper
NM_015331.3
p.E184D
c.552A>C
1 paper
NM_015331.3
p.E184D
c.552A>T
1 paper
NM_001290184.2
p.L163delFs
c.487delC
1 paper
NM_015331.3
p.T189S
c.565A>T
1 paper
NM_015331.3
p.T189S
c.566C>G
1 paper
NM_015331.3
p.I180F
c.538A>T
3 papers
NM_015331.3
p.S177G
c.529A>G
1 paper
NM_015331.3
p.S177C
c.529A>T
2 papers
NM_015331.3
p.Q194_C195Splc
c.582+1G>A
1 paper
NM_015331.3
p.G168D
c.503G>A
1 paper
NM_015331.3
p.G168S
c.502G>A
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