Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.E120K

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
43 papers
NM_000021.4
p.E120K
c.358G>A
Surrounding Variants
1 paper
NM_000021.4
p.E120Q
c.358G>C
1 paper
NM_000021.4
p.E120insFs
c.359_360insT
2 papers
NM_000021.4
p.E120A
c.359A>C
19 papers
NM_000021.4
p.E120G
c.359A>G
29 papers
NM_000021.4
p.E120D
c.360A>C
36 papers
NM_000021.4
p.E120D
c.360A>T
21 papers
NM_000021.4
p.T119I
c.356C>T
1 paper
NM_000021.4
p.D121N
c.361G>A
1 paper
NM_000021.4
p.F118C
c.353T>G
12 papers
NM_000021.4
p.T122P
c.364A>C
5 papers
NM_000021.4
p.T122A
c.364A>G
2 papers
NM_000021.4
p.F118V
c.352T>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."