Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.T281T

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.T281T
c.843G>C
Surrounding Variants
1 paper
NM_000021.4
p.T281T
c.843G>A
2 papers
NM_000021.4
p.L282I
c.844C>A
38 papers
NM_000021.4
p.L282V
c.844C>G
10 papers
NM_000021.4
p.L282F
c.844C>T
2 papers
NM_000021.4
p.T281P
c.841A>C
1 paper
NM_000021.4
p.T281A
c.841A>G
1 paper
NM_000021.4
p.L282H
c.845T>A
6 papers
NM_000021.4
p.L282P
c.845T>C
31 papers
NM_000021.4
p.L282R
c.845T>G
575 papers
NM_000021.4
p.E280A
c.839A>C
87 papers
NM_000021.4
p.E280G
c.839A>G
7 papers
NM_000021.4
p.F283L
c.847T>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."