Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I100insFs

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.I100insFs
c.300dupT
Surrounding Variants
3 papers
NM_000021.4
p.I100F
c.298A>T
2 papers
NM_000021.4
p.I100N
c.299T>A
1 paper
NM_000021.4
p.T99I
c.296C>T
1 paper
NM_000021.4
p.K101_S102del2
c.301_305del6
1 paper
NM_000021.4
p.T99P
c.295A>C
9 papers
NM_000021.4
p.T99A
c.295A>G
1 paper
NM_000021.4
p.K101*
c.301A>T
1 paper
NM_000021.4
p.A98V
c.293C>T
2 papers
NM_000021.4
p.S102A
c.304T>G
2 papers
NM_000021.4
p.V97A
c.290T>C
4 papers
NM_000021.4
p.V97M
c.289G>A
26 papers
NM_000021.4
p.V97L
c.289G>C
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