Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.D257A

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
143 papers
NM_000021.4
p.D257A
c.770A>C
Surrounding Variants
1 paper
NM_000021.4
p.D257Splc
c.769+1G>A
3 papers
NM_000021.4
p.D257N
c.769G>A
1 paper
NM_000021.4
p.D257H
c.769G>C
7 papers
NM_000021.4
p.D257E
c.771T>A
7 papers
NM_000021.4
p.D257E
c.771T>G
2 papers
NM_000021.4
p.Y256insFs
c.767_768insCC
32 papers
NM_000021.4
p.Y256S
c.767A>C
1 paper
NM_000021.4
p.Y256C
c.767A>G
2 papers
NM_000021.4
p.Y256F
c.767A>T
4 papers
NM_000021.4
p.Y256N
c.766T>A
1 paper
NM_000021.4
p.V255V
c.765A>T
1 paper
NM_000021.4
p.S254P
c.760T>C
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."