Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L241P

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
3 papers
NM_000021.4
p.L241P
c.722T>C
Surrounding Variants
3 papers
NM_000021.4
p.L241R
c.722T>G
19 papers
NM_000021.4
p.P242delFs
c.725delC
4 papers
NM_000021.4
p.L241I
c.721C>A
6 papers
NM_000021.4
p.P242fs
c.724_725fs
1 paper
NM_000021.4
p.Y240Y
c.720C>T
6 papers
NM_000021.4
p.P242fs
c.724_725fs
1 paper
NM_000021.4
p.Y240S
c.719A>C
2 papers
NM_000021.4
p.Y240C
c.719A>G
1 paper
NM_000021.4
p.Y240F
c.719A>T
3 papers
NM_000021.4
p.P242H
c.725C>A
1 paper
NM_000021.4
p.P242_E243delFs
c.726_727delTG
1 paper
NM_000021.4
p.P242_E243ins1
c.726_727insTTA
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."