Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G209A

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
10 papers
NM_000021.4
p.G209A
c.626G>C
Surrounding Variants
17 papers
NM_000021.4
p.G209E
c.626G>A
54 papers
NM_000021.4
p.G209V
c.626G>T
19 papers
NM_000021.4
p.G209R
c.625G>A
19 papers
NM_000021.4
p.G209R
c.625G>C
2 papers
NM_000021.4
p.M210R
c.629T>G
1 paper
NM_000021.4
p.I211T
c.632T>C
5 papers
NM_000021.4
p.I211M
c.633T>G
1 paper
NM_000021.4
p.S212A
c.634T>G
1 paper
NM_000021.4
p.S212fs
c.634_635fs
19 papers
NM_000021.4
p.S212Y
c.635C>A
1 paper
NM_000021.4
p.S212C
c.635C>G
30 papers
NM_000021.4
p.G206D
c.617G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."