Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L282H

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.L282H
c.845T>A
Surrounding Variants
6 papers
NM_000021.4
p.L282P
c.845T>C
31 papers
NM_000021.4
p.L282R
c.845T>G
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
1 paper
NM_000021.4
p.T281T
c.843G>A
1 paper
NM_000021.4
p.T281T
c.843G>C
7 papers
NM_000021.4
p.F283L
c.847T>C
2 papers
NM_000021.4
p.T281P
c.841A>C
1 paper
NM_000021.4
p.T281A
c.841A>G
7 papers
NM_000021.4
p.F283L
c.849T>A
7 papers
NM_000021.4
p.F283L
c.849T>G
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