Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.T440del1

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
16 papers
NM_000021.4
p.T440del1
c.1318_1319delACC
Surrounding Variants
1 paper
NM_000021.4
p.I439T
c.1316T>C
16 papers
NM_000021.4
p.I439S
c.1316T>G
13 papers
NM_000021.4
p.I439V
c.1315A>G
1 paper
NM_000021.4
p.T440insFs
c.1319dupC
1 paper
NM_000021.4
p.T440fs
c.1318_1319fs
1 paper
NM_000021.4
p.T440P
c.1318A>C
7 papers
NM_000021.4
p.S438C
c.1313C>G
1 paper
NM_000021.4
p.S438F
c.1313C>T
1 paper
NM_000021.4
p.S438T
c.1312T>A
8 papers
NM_000021.4
p.S438P
c.1312T>C
2 papers
NM_000021.4
p.S438A
c.1312T>G
1 paper
NM_000021.4
p.I437M
c.1311C>G
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."