Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1

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
1–12 of 1227 variants
575 papers
NM_000021.4
p.E280A
c.839A>C
556 papers
NM_000021.4
p.M146L
c.436A>C
556 papers
NM_000021.4
p.M146L
c.436A>T
485 papers
NM_000021.4
p.M146V
c.436A>G
380 papers
NM_000021.4
p.L286V
c.856C>G
343 papers
NM_000021.4
p.A246E
c.737C>A
258 papers
NM_000021.4
p.L166P
c.497T>C
178 papers
NM_000021.4
p.E318G
c.953A>G
161 papers
NM_000021.4
p.P264L
c.791C>T
160 papers
NM_000021.4
p.D385A
c.1154A>C
151 papers
NM_000021.4
p.H163R
c.488A>G
143 papers
NM_000021.4
p.M139V
c.415A>G
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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."