Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L113P

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
59 papers
NM_000021.4
p.L113P
c.338T>C
Surrounding Variants
16 papers
NM_000021.4
p.L113Q
c.338T>A
1 paper
NM_000021.4
p.L113R
c.338T>G
1 paper
NM_000021.4
p.L113L
c.337C>T
1 paper
NM_000021.4
p.Q112K
c.334C>A
1 paper
NM_000021.4
p.Q112E
c.334C>G
1 paper
NM_000021.4
p.G111G
c.333G>C
1 paper
NM_000021.4
p.G111E
c.332G>A
2 papers
NM_000021.4
p.G111A
c.332G>C
6 papers
NM_000021.4
p.G111V
c.332G>T
5 papers
NM_000021.4
p.G111W
c.331G>T
2 papers
NM_000021.4
p.D110A
c.329A>C
1 paper
NM_000021.4
p.D110H
c.328G>C
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