Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.Q12P

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.Q12P
c.35A>C
Surrounding Variants
1 paper
NM_000021.4
p.Q12insFs
c.34_35insAT
1 paper
NM_000021.4
p.Q12H
c.36G>C
1 paper
NM_000021.4
p.N13D
c.37A>G
1 paper
NM_000021.4
p.F11_Q12insFs
c.33_34insT
1 paper
NM_000021.4
p.N13T
c.38A>C
1 paper
NM_000021.4
p.N13S
c.38A>G
3 papers
NM_000021.4
p.N13_A14delFs
c.39_40delTG
1 paper
NM_000021.4
p.F11L
c.31T>C
1 paper
NM_000021.4
p.F11insFs
c.31_32insG
1 paper
NM_000021.4
p.Y10*
c.30C>A
1 paper
NM_000021.4
p.A14T
c.40G>A
1 paper
NM_000021.4
p.A14P
c.40G>C
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