Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.Y159S

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
2 papers
NM_000021.4
p.Y159S
c.476A>C
Surrounding Variants
4 papers
NM_000021.4
p.Y159C
c.476A>G
7 papers
NM_000021.4
p.Y159F
c.476A>T
1 paper
NM_000021.4
p.Y159H
c.475T>C
1 paper
NM_000021.4
p.Y159Y
c.477T>C
3 papers
NM_000021.4
p.C158Y
c.473G>A
1 paper
NM_000021.4
p.R157R
c.471G>A
4 papers
NM_000021.4
p.R157S
c.471G>C
4 papers
NM_000021.4
p.R157S
c.471G>T
1 paper
NM_000021.4
p.R157W
c.469A>T
1 paper
NM_000021.4
p.Y156C
c.467A>G
3 papers
NM_000021.4
p.Y156F
c.467A>T
1 paper
NM_000021.4
p.Y156_R157delFs
c.468_469delCA
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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."