Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.E300D

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.E300D
c.900A>C
Surrounding Variants
1 paper
NM_000021.4
p.E300E
c.900A>G
1 paper
NM_000021.4
p.E300D
c.900A>T
1 paper
NM_000021.4
p.E300K
c.898G>A
1 paper
NM_000021.4
p.A299G
c.896C>G
1 paper
NM_000021.4
p.D302A
c.905A>C
1 paper
NM_000021.4
p.A299P
c.895G>C
1 paper
NM_000021.4
p.M298I
c.894G>T
1 paper
NM_000021.4
p.M298K
c.893T>A
2 papers
NM_000021.4
p.M298T
c.893T>C
1 paper
NM_000021.4
p.M298V
c.892A>G
3 papers
NM_000021.4
p.P303L
c.908C>T
1 paper
NM_000021.4
p.N297D
c.889A>G
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