Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.V193M

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
1 paper
NM_000021.4
p.V193M
c.577G>A
Surrounding Variants
1 paper
NM_000021.4
p.V193L
c.577G>C
1 paper
NM_000021.4
p.V193L
c.577G>T
3 papers
NM_000021.4
p.A192V
c.575C>T
2 papers
NM_000021.4
p.A192T
c.574G>A
1 paper
NM_000021.4
p.D194N
c.580G>A
1 paper
NM_000021.4
p.D194G
c.581A>G
1 paper
NM_000021.4
p.D194E
c.582C>A
1 paper
NM_000021.4
p.D194E
c.582C>G
6 papers
NM_000021.4
p.V191A
c.572T>C
1 paper
NM_000021.4
p.V191I
c.571G>A
1 paper
NM_000021.4
p.V191L
c.571G>C
1 paper
NM_000021.4
p.V191F
c.571G>T
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