Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.C92S

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
39 papers
NM_000021.4
p.C92S
c.275G>C
Surrounding Variants
2 papers
NM_000021.4
p.C92F
c.275G>T
1 paper
NM_000021.4
p.C92C
c.276C>T
39 papers
NM_000021.4
p.C92S
c.274T>A
1 paper
NM_000021.4
p.M93L
c.277A>C
4 papers
NM_000021.4
p.M93V
c.277A>G
1 paper
NM_000021.4
p.L91L
c.273C>A
1 paper
NM_000021.4
p.L91L
c.273C>T
22 papers
NM_000021.4
p.V94M
c.280G>A
1 paper
NM_000021.4
p.T90N
c.269C>A
1 paper
NM_000021.4
p.V94E
c.281T>A
1 paper
NM_000021.4
p.T90S
c.268A>T
2 papers
NM_000021.4
p.V89E
c.266T>A
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