Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.K239N

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
22 papers
NM_000021.4
p.K239N
c.717G>C
Surrounding Variants
1 paper
NM_000021.4
p.K239K
c.717G>A
22 papers
NM_000021.4
p.K239N
c.717G>T
1 paper
NM_000021.4
p.Y240_L241del2
c.718_722del6
1 paper
NM_000021.4
p.Y240S
c.719A>C
5 papers
NM_000021.4
p.K239E
c.715A>G
2 papers
NM_000021.4
p.Y240C
c.719A>G
1 paper
NM_000021.4
p.Y240F
c.719A>T
1 paper
NM_000021.4
p.K239ins1
c.715_716insTAA
14 papers
NM_000021.4
p.I238M
c.714C>G
1 paper
NM_000021.4
p.Y240Y
c.720C>T
4 papers
NM_000021.4
p.L241I
c.721C>A
3 papers
NM_000021.4
p.L241P
c.722T>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."