Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.R220P

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.R220P
c.659G>C
Surrounding Variants
4 papers
NM_000021.4
p.R220Q
c.659G>A
1 paper
NM_000021.4
p.R220R
c.660A>G
4 papers
NM_000021.4
p.R220G
c.658C>G
16 papers
NM_000021.4
p.L219P
c.656T>C
7 papers
NM_000021.4
p.L219R
c.656T>G
1 paper
NM_000021.4
p.L221R
c.662T>G
7 papers
NM_000021.4
p.L219F
c.655C>T
2 papers
NM_000021.4
p.P218P
c.654A>G
1 paper
NM_000021.4
p.P218P
c.654A>T
2 papers
NM_000021.4
p.Q222K
c.664C>A
4 papers
NM_000021.4
p.Q222P
c.665A>C
7 papers
NM_000021.4
p.Q222R
c.665A>G
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