Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G217R

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
15 papers
NM_000021.4
p.G217R
c.649G>C
Surrounding Variants
1 paper
NM_000021.4
p.G217C
c.649G>T
50 papers
NM_000021.4
p.G217D
c.650G>A
1 paper
NM_000021.4
p.G217A
c.650G>C
2 papers
NM_000021.4
p.G217V
c.650G>T
1 paper
NM_000021.4
p.K216T
c.647A>C
1 paper
NM_000021.4
p.P218S
c.652C>T
4 papers
NM_000021.4
p.P218L
c.653C>T
1 paper
NM_000021.4
p.W215C
c.645G>C
1 paper
NM_000021.4
p.W215C
c.645G>T
2 papers
NM_000021.4
p.P218P
c.654A>G
1 paper
NM_000021.4
p.P218P
c.654A>T
7 papers
NM_000021.4
p.L219F
c.655C>T
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