Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.Y115C

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
46 papers
NM_000021.4
p.Y115C
c.344A>G
Surrounding Variants
3 papers
NM_000021.4
p.Y115F
c.344A>T
56 papers
NM_000021.4
p.Y115H
c.343T>C
3 papers
NM_000021.4
p.Y115D
c.343T>G
1 paper
NM_000021.4
p.T116_F118del3
c.346_353del9
1 paper
NM_000021.4
p.Y115_T116delFs
c.344_347del4
2 papers
NM_000021.4
p.T116A
c.346A>G
1 paper
NM_000021.4
p.T116delFs
c.347_348delCC
1 paper
NM_000021.4
p.I114M
c.342C>G
30 papers
NM_000021.4
p.T116N
c.347C>A
23 papers
NM_000021.4
p.T116I
c.347C>T
1 paper
NM_000021.4
p.T116delins
c.347_348delinsGG
1 paper
NM_000021.4
p.I114T
c.341T>C
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