Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.W294*

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
6 papers
NM_000021.4
p.W294*
c.881G>A
Surrounding Variants
6 papers
NM_000021.4
p.W294*
c.882G>A
1 paper
NM_000021.4
p.V293A
c.878T>C
1 paper
NM_000021.4
p.V296E
c.887T>A
1 paper
NM_000021.4
p.V296A
c.887T>C
1 paper
NM_000021.4
p.M292V
c.874A>G
1 paper
NM_000021.4
p.N297D
c.889A>G
1 paper
NM_000021.4
p.T291I
c.872C>T
20 papers
NM_000021.4
p.T291P
c.871A>C
12 papers
NM_000021.4
p.T291A
c.871A>G
1 paper
NM_000021.4
p.M298V
c.892A>G
1 paper
NM_000021.4
p.M298K
c.893T>A
2 papers
NM_000021.4
p.M298T
c.893T>C
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