Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.S141C

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.S141C
c.421A>T
Surrounding Variants
1 paper
NM_000021.4
p.S141R
c.421A>C
1 paper
NM_000021.4
p.S141G
c.421A>G
1 paper
NM_000021.4
p.S141N
c.422G>A
1 paper
NM_000021.4
p.S141R
c.423T>A
1 paper
NM_000021.4
p.S141R
c.423T>G
1 paper
NM_000021.4
p.I140V
c.418A>G
10 papers
NM_000021.4
p.V142I
c.424G>A
3 papers
NM_000021.4
p.V142F
c.424G>T
32 papers
NM_000021.4
p.M139I
c.417G>A
31 papers
NM_000021.4
p.M139I
c.417G>C
28 papers
NM_000021.4
p.M139I
c.417G>T
1 paper
NM_000021.4
p.V142A
c.425T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."