Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L22_S23insFs

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
3 papers
NM_000021.4
p.L22_S23insFs
c.66_67insG
Surrounding Variants
1 paper
NM_000021.4
p.L22fs
c.64_65fs
2 papers
NM_000021.4
p.L22L
c.64C>T
1 paper
NM_000021.4
p.H21insFs
c.62_63insAC
1 paper
NM_000021.4
p.S23insFs
c.68_69insAC
1 paper
NM_000021.4
p.S23I
c.68G>T
2 papers
NM_000021.4
p.S23S
c.69C>T
2 papers
NM_000021.4
p.N24T
c.71A>C
5 papers
NM_000021.4
p.N24S
c.71A>G
2 papers
NM_000021.4
p.T25A
c.73A>G
1 paper
NM_000021.4
p.D19_N20insFs
c.57_58insG
1 paper
NM_000021.4
p.T25N
c.74C>A
1 paper
NM_000021.4
p.D19N
c.55G>A
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