Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.F445C

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.F445C
c.1334T>G
Surrounding Variants
1 paper
NM_000021.4
p.Y446H
c.1336T>C
4 papers
NM_000021.4
p.Y446C
c.1337A>G
1 paper
NM_000021.4
p.V444A
c.1331T>C
1 paper
NM_000021.4
p.V444insFs
c.1330_1331insCC
3 papers
NM_000021.4
p.F447C
c.1340T>G
1 paper
NM_000021.4
p.L443V
c.1327C>G
1 paper
NM_000021.4
p.A448P
c.1342G>C
1 paper
NM_000021.4
p.G442V
c.1325G>T
5 papers
NM_000021.4
p.F441L
c.1323T>A
4 papers
NM_000021.4
p.F441L
c.1323T>G
2 papers
NM_000021.4
p.F441C
c.1322T>G
5 papers
NM_000021.4
p.F441L
c.1321T>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."