Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.R27C

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.R27C
c.79C>T
Surrounding Variants
1 paper
NM_000021.4
p.V26_R27insFs
c.78_79insC
1 paper
NM_000021.4
p.R27L
c.80G>T
1 paper
NM_000021.4
p.R27R
c.81T>C
1 paper
NM_000021.4
p.T25N
c.74C>A
1 paper
NM_000021.4
p.S28_Q29insFs
c.84_85insT
2 papers
NM_000021.4
p.T25A
c.73A>G
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.S23S
c.69C>T
2 papers
NM_000021.4
p.Q29_N30Splc
c.87+2T>C
1 paper
NM_000021.4
p.S23insFs
c.68_69insAC
1 paper
NM_000021.4
p.S23I
c.68G>T
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