Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G183R

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.G183R
c.547G>C
Surrounding Variants
1 paper
NM_000021.4
p.G183R
c.547G>A
1 paper
NM_000021.4
p.L182F
c.546G>C
1 paper
NM_000021.4
p.G183A
c.548G>C
61 papers
NM_000021.4
p.G183V
c.548G>T
1 paper
NM_000021.4
p.L182F
c.546G>T
1 paper
NM_000021.4
p.G183Splc
c.548+1G>T
2 papers
NM_000021.4
p.L182V
c.544T>G
1 paper
NM_000021.4
p.Y181C
c.542A>G
1 paper
NM_000021.4
p.Y181F
c.542A>T
4 papers
NM_000021.4
p.I180N
c.539T>A
2 papers
NM_000021.4
p.I180L
c.538A>C
6 papers
NM_000021.4
p.I180F
c.538A>T
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