Varaico: Literature-Extracted Genetic Variants

Gene:NCSTN
Variant:p.K591E

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.K591E
c.1771A>G
Surrounding Variants
15 papers
NM_015331.3
p.S590G
c.1768A>G
2 papers
NM_015331.3
p.S590fs
c.1768_1769fs
1 paper
NM_015331.3
p.S594fs
c.1780_1781fs
1 paper
NM_015331.3
p.E584D
c.1752G>C
1 paper
NM_015331.3
p.E584D
c.1752G>T
16 papers
NM_015331.3
p.E584delFs
c.1752delG
2 papers
NM_015331.3
p.E584fs
c.1750_1751fs
4 papers
NM_015331.3
p.R583*
c.1747C>T
4 papers
NM_015331.3
p.G576V
c.1727G>T
1 paper
NM_015331.3
p.A572G
c.1715C>G
1 paper
NM_015331.3
p.L571M
c.1711T>A
1 paper
NM_015331.3
p.Q568K
c.1702C>A
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