Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.M139K

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
14 papers
NM_000021.4
p.M139K
c.416T>A
Surrounding Variants
49 papers
NM_000021.4
p.M139T
c.416T>C
1 paper
NM_000021.4
p.M139R
c.416T>G
13 papers
NM_000021.4
p.M139L
c.415A>C
143 papers
NM_000021.4
p.M139V
c.415A>G
15 papers
NM_000021.4
p.M139L
c.415A>T
32 papers
NM_000021.4
p.M139I
c.417G>A
31 papers
NM_000021.4
p.M139I
c.417G>C
28 papers
NM_000021.4
p.M139I
c.417G>T
1 paper
NM_000021.4
p.I140V
c.418A>G
1 paper
NM_000021.4
p.I138_M139insFs
c.414_415insA
1 paper
NM_000021.4
p.I138I
c.414C>T
1 paper
NM_000021.4
p.S141R
c.421A>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."