Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.A137P

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.A137P
c.409G>C
Surrounding Variants
5 papers
NM_000021.4
p.A137T
c.409G>A
1 paper
NM_000021.4
p.A137_I138ins1
c.411_412insCTA
11 papers
NM_000021.4
p.A136G
c.407C>G
5 papers
NM_000021.4
p.A136V
c.407C>T
1 paper
NM_000021.4
p.A136T
c.406G>A
35 papers
NM_000021.4
p.N135S
c.404A>G
2 papers
NM_000021.4
p.N135I
c.404A>T
1 paper
NM_000021.4
p.I138_M139insFs
c.414_415insA
1 paper
NM_000021.4
p.I138I
c.414C>T
13 papers
NM_000021.4
p.M139L
c.415A>C
143 papers
NM_000021.4
p.M139V
c.415A>G
29 papers
NM_000021.4
p.N135D
c.403A>G
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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."