Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G209R

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
19 papers
NM_000021.4
p.G209R
c.625G>C
Surrounding Variants
19 papers
NM_000021.4
p.G209R
c.625G>A
17 papers
NM_000021.4
p.G209E
c.626G>A
10 papers
NM_000021.4
p.G209A
c.626G>C
54 papers
NM_000021.4
p.G209V
c.626G>T
2 papers
NM_000021.4
p.M210R
c.629T>G
1 paper
NM_000021.4
p.I211T
c.632T>C
30 papers
NM_000021.4
p.G206D
c.617G>A
102 papers
NM_000021.4
p.G206A
c.617G>C
34 papers
NM_000021.4
p.G206V
c.617G>T
5 papers
NM_000021.4
p.I211M
c.633T>G
24 papers
NM_000021.4
p.G206S
c.616G>A
2 papers
NM_000021.4
p.G206R
c.616G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."