Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.T440P

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.T440P
c.1318A>C
Surrounding Variants
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.I439T
c.1316T>C
16 papers
NM_000021.4
p.I439S
c.1316T>G
16 papers
NM_000021.4
p.T440del1
c.1318_1319delACC
13 papers
NM_000021.4
p.I439V
c.1315A>G
5 papers
NM_000021.4
p.F441L
c.1321T>C
1 paper
NM_000021.4
p.F441V
c.1321T>G
2 papers
NM_000021.4
p.F441C
c.1322T>G
7 papers
NM_000021.4
p.S438C
c.1313C>G
1 paper
NM_000021.4
p.S438F
c.1313C>T
5 papers
NM_000021.4
p.F441L
c.1323T>A
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