Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.V152V

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.V152V
c.456T>G
Surrounding Variants
30 papers
NM_000021.4
p.L153V
c.457C>G
1 paper
NM_000021.4
p.V152I
c.454G>A
1 paper
NM_000021.4
p.V152L
c.454G>C
1 paper
NM_000021.4
p.L153P
c.458T>C
1 paper
NM_000021.4
p.Y154_K160ins2
c.460_480dup21
1 paper
NM_000021.4
p.V151V
c.453G>A
20 papers
NM_000021.4
p.Y154N
c.460T>A
1 paper
NM_000021.4
p.V151E
c.452T>A
1 paper
NM_000021.4
p.Y154H
c.460T>C
1 paper
NM_000021.4
p.V151delFs
c.453delG
3 papers
NM_000021.4
p.Y154S
c.461A>C
9 papers
NM_000021.4
p.Y154C
c.461A>G
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."