Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.E18V

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
24 papers
NM_000021.4
p.E18V
c.53A>T
Surrounding Variants
1 paper
NM_000021.4
p.E18K
c.52G>A
1 paper
NM_000021.4
p.E18Q
c.52G>C
1 paper
NM_000021.4
p.D19N
c.55G>A
1 paper
NM_000021.4
p.S17_E18insFs
c.51_52ins31
1 paper
NM_000021.4
p.D19_N20insFs
c.57_58insG
1 paper
NM_000021.4
p.M16I
c.48G>A
1 paper
NM_000021.4
p.M16I
c.48G>C
1 paper
NM_000021.4
p.M16I
c.48G>T
2 papers
NM_000021.4
p.M16R
c.47T>G
1 paper
NM_000021.4
p.M16V
c.46A>G
2 papers
NM_000021.4
p.Q15H
c.45G>C
2 papers
NM_000021.4
p.Q15H
c.45G>T
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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."