Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.S169A

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
2 papers
NM_000021.4
p.S169A
c.505T>G
Surrounding Variants
29 papers
NM_000021.4
p.S169P
c.505T>C
43 papers
NM_000021.4
p.S169L
c.506C>T
2 papers
NM_000021.4
p.S170del1
c.508_509delTCT
7 papers
NM_000021.4
p.I168T
c.503T>C
20 papers
NM_000021.4
p.S169del1
c.505_506delTCA
12 papers
NM_000021.4
p.S170P
c.508T>C
2 papers
NM_000021.4
p.S170A
c.508T>G
1 paper
NM_000021.4
p.S170_L171insFs
c.510_511insT
1 paper
NM_000021.4
p.S170_L171ins1
c.510_511insTAT
1 paper
NM_000021.4
p.S170C
c.509C>G
79 papers
NM_000021.4
p.S170F
c.509C>T
7 papers
NM_000021.4
p.I168del1
c.502_503delATA
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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."