Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.S132A

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
11 papers
NM_000021.4
p.S132A
c.394T>G
Surrounding Variants
1 paper
NM_000021.4
p.H131Q
c.393C>A
1 paper
NM_000021.4
p.H131Q
c.393C>G
1 paper
NM_000021.4
p.S132L
c.395C>T
1 paper
NM_000021.4
p.S132S
c.396A>C
10 papers
NM_000021.4
p.H131R
c.392A>G
10 papers
NM_000021.4
p.S132S
c.396A>T
1 paper
NM_000021.4
p.L130P
c.389T>C
1 paper
NM_000021.4
p.I133I
c.399T>C
1 paper
NM_000021.4
p.L134P
c.401T>C
4 papers
NM_000021.4
p.L134R
c.401T>G
1 paper
NM_000021.4
p.A129D
c.386C>A
1 paper
NM_000021.4
p.L134L
c.402G>A
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