Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G206A

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
102 papers
NM_000021.4
p.G206A
c.617G>C
Surrounding Variants
30 papers
NM_000021.4
p.G206D
c.617G>A
34 papers
NM_000021.4
p.G206V
c.617G>T
24 papers
NM_000021.4
p.G206S
c.616G>A
2 papers
NM_000021.4
p.G206R
c.616G>C
1 paper
NM_000021.4
p.G206C
c.616G>T
1 paper
NM_000021.4
p.F205L
c.615T>A
1 paper
NM_000021.4
p.F205L
c.615T>G
1 paper
NM_000021.4
p.F205C
c.614T>G
1 paper
NM_000021.4
p.F205L
c.613T>C
3 papers
NM_000021.4
p.F205_G206del1
c.614_616delTTG
19 papers
NM_000021.4
p.G209R
c.625G>A
19 papers
NM_000021.4
p.G209R
c.625G>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."