Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.Q222P

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
4 papers
NM_000021.4
p.Q222P
c.665A>C
Surrounding Variants
7 papers
NM_000021.4
p.Q222R
c.665A>G
3 papers
NM_000021.4
p.Q222L
c.665A>T
2 papers
NM_000021.4
p.Q222K
c.664C>A
22 papers
NM_000021.4
p.Q222H
c.666G>C
22 papers
NM_000021.4
p.Q222H
c.666G>T
4 papers
NM_000021.4
p.Q223K
c.667C>A
1 paper
NM_000021.4
p.Q223ins1
c.667_668insGCT
1 paper
NM_000021.4
p.Q223delFs
c.668delA
16 papers
NM_000021.4
p.Q223R
c.668A>G
1 paper
NM_000021.4
p.L221R
c.662T>G
1 paper
NM_000021.4
p.A224_L226del3
c.670_677del9
1 paper
NM_000021.4
p.R220R
c.660A>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."