Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.E318G

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
178 papers
NM_000021.4
p.E318G
c.953A>G
Surrounding Variants
3 papers
NM_000021.4
p.S319G
c.955A>G
1 paper
NM_000021.4
p.S319C
c.955A>T
1 paper
NM_000021.4
p.Y315C
c.944A>G
1 paper
NM_000021.4
p.Y315H
c.943T>C
1 paper
NM_000021.4
p.K314M
c.941A>T
1 paper
NM_000021.4
p.S313Y
c.938C>A
3 papers
NM_000021.4
p.S313A
c.937T>G
1 paper
NM_000021.4
p.K311N
c.933A>C
1 paper
NM_000021.4
p.K311N
c.933A>T
17 papers
NM_000021.4
p.K311R
c.932A>G
1 paper
NM_000021.4
p.N312_K314delFs
c.934_940del7
1 paper
NM_000021.4
p.S310F
c.929C>T
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