Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.D70N

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
2 papers
NM_000021.4
p.D70N
c.208G>A
Surrounding Variants
6 papers
NM_000021.4
p.E69D
c.207A>C
1 paper
NM_000021.4
p.D70G
c.209A>G
6 papers
NM_000021.4
p.E69D
c.207A>T
1 paper
NM_000021.4
p.E69A
c.206A>C
2 papers
NM_000021.4
p.E71K
c.211G>A
1 paper
NM_000021.4
p.E69K
c.205G>A
1 paper
NM_000021.4
p.E68D
c.204A>C
2 papers
NM_000021.4
p.E71G
c.212A>G
1 paper
NM_000021.4
p.E68D
c.204A>T
2 papers
NM_000021.4
p.E72K
c.214G>A
1 paper
NM_000021.4
p.E68K
c.202G>A
1 paper
NM_000021.4
p.E72insFs
c.216dupG
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