Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.N405T

PSEN1

3,833 papers

RefSeq Summary

Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutati...

Pfam Domains

Presenilinaa 76–457UCSCPresenilin

Gene Aliases

HGNC Name

presenilin 1

HGNC Previous Symbol

AD3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000021.4
p.N405T
c.1214A>C
Surrounding Variants
25 papers
NM_000021.4
p.N405S
c.1214A>G
2 papers
NM_000021.4
p.W404C
c.1212G>C
2 papers
NM_000021.4
p.W404C
c.1212G>T
3 papers
NM_000021.4
p.D403G
c.1208A>G
1 paper
NM_000021.4
p.G402_D403insFs
c.1206_1207insC
9 papers
NM_000021.4
p.I408T
c.1223T>C
14 papers
NM_000021.4
p.A409T
c.1225G>A
3 papers
NM_000021.4
p.S401R
c.1203T>A
3 papers
NM_000021.4
p.S401R
c.1203T>G
3 papers
NM_000021.4
p.S401R
c.1201A>C
1 paper
NM_000021.4
p.S401C
c.1201A>T
1 paper
NM_000021.4
p.C410S
c.1228T>A
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