Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.K76E

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.K76E
c.226A>G
Surrounding Variants
1 paper
NM_000021.4
p.K76insFs
c.227_228insT
1 paper
NM_000021.4
p.Y77D
c.229T>G
1 paper
NM_000021.4
p.L75_K76del1
c.224_226delTGA
2 papers
NM_000021.4
p.Y77C
c.230A>G
1 paper
NM_000021.4
p.T74T
c.222A>T
1 paper
NM_000021.4
p.Y77F
c.230A>T
2 papers
NM_000021.4
p.T74I
c.221C>T
1 paper
NM_000021.4
p.Y77*
c.231T>A
2 papers
NM_000021.4
p.T74A
c.220A>G
4 papers
NM_000021.4
p.G78C
c.232G>T
1 paper
NM_000021.4
p.L73L
c.219G>A
2 papers
NM_000021.4
p.L73L
c.219G>C
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