Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.E277A

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.E277A
c.830A>C
Surrounding Variants
1 paper
NM_000021.4
p.E277E
c.831G>A
3 papers
NM_000021.4
p.R278G
c.832A>G
1 paper
NM_000021.4
p.R278*
c.832A>T
1 paper
NM_000021.4
p.Q276Q
c.828G>A
32 papers
NM_000021.4
p.R278K
c.833G>A
63 papers
NM_000021.4
p.R278T
c.833G>C
74 papers
NM_000021.4
p.R278I
c.833G>T
15 papers
NM_000021.4
p.R278S
c.834A>C
15 papers
NM_000021.4
p.R278S
c.834A>T
1 paper
NM_000021.4
p.Q276*
c.826C>T
1 paper
NM_000021.4
p.N279D
c.835A>G
1 paper
NM_000021.4
p.N279S
c.836A>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."