Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.Y10*

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.Y10*
c.30C>A
Surrounding Variants
1 paper
NM_000021.4
p.Y10F
c.29A>T
1 paper
NM_000021.4
p.F11L
c.31T>C
1 paper
NM_000021.4
p.F11insFs
c.31_32insG
1 paper
NM_000021.4
p.S9S
c.27C>A
1 paper
NM_000021.4
p.F11_Q12insFs
c.33_34insT
1 paper
NM_000021.4
p.Q12insFs
c.34_35insAT
1 paper
NM_000021.4
p.S9F
c.26C>T
1 paper
NM_000021.4
p.Q12P
c.35A>C
1 paper
NM_000021.4
p.Q12H
c.36G>C
1 paper
NM_000021.4
p.N13D
c.37A>G
2 papers
NM_000021.4
p.L8*
c.23T>A
1 paper
NM_000021.4
p.L8ins6
c.23_24ins18
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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."