Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.D458N

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.D458N
c.1372G>A
Surrounding Variants
1 paper
NM_000021.4
p.D458delFs
c.1374delC
5 papers
NM_000021.4
p.M457V
c.1369A>G
1 paper
NM_000021.4
p.F456C
c.1367T>G
1 paper
NM_000021.4
p.L460_A461insFs
c.1380_1381insC
1 paper
NM_000021.4
p.P455H
c.1364C>A
2 papers
NM_000021.4
p.A461V
c.1382C>T
1 paper
NM_000021.4
p.Q454_P455del1
c.1362_1364delGCC
1 paper
NM_000021.4
p.F462C
c.1385T>G
1 paper
NM_000021.4
p.V453L
c.1357G>C
1 paper
NM_000021.4
p.V453L
c.1357G>T
1 paper
NM_000021.4
p.L452R
c.1355T>G
1 paper
NM_000021.4
p.Q464K
c.1390C>A
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