Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.Y156ins2

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
1 paper
NM_000021.4
p.Y156ins2
c.466_467ins6
Surrounding Variants
1 paper
NM_000021.4
p.Y156insFs
c.466_467insT
1 paper
NM_000021.4
p.Y154*
c.462T>G
1 paper
NM_000021.4
p.K155delFs
c.465delA
1 paper
NM_000021.4
p.Y156_R157delFs
c.468_469delCA
3 papers
NM_000021.4
p.Y154S
c.461A>C
9 papers
NM_000021.4
p.Y154C
c.461A>G
1 paper
NM_000021.4
p.Y156C
c.467A>G
3 papers
NM_000021.4
p.Y156F
c.467A>T
20 papers
NM_000021.4
p.Y154N
c.460T>A
1 paper
NM_000021.4
p.Y154H
c.460T>C
1 paper
NM_000021.4
p.R157W
c.469A>T
1 paper
NM_000021.4
p.L153P
c.458T>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."