Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L4*

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.L4*
c.11T>A
Surrounding Variants
1 paper
NM_000021.4
p.E3D
c.9G>C
2 papers
NM_000021.4
p.E3D
c.9G>T
2 papers
NM_000021.4
p.E3A
c.8A>C
2 papers
NM_000021.4
p.P5H
c.14C>A
1 paper
NM_000021.4
p.A6T
c.16G>A
1 paper
NM_000021.4
p.A6P
c.16G>C
1 paper
NM_000021.4
p.A6S
c.16G>T
1 paper
NM_000021.4
p.A6E
c.17C>A
1 paper
NM_000021.4
p.T2R
c.5C>G
1 paper
NM_000021.4
p.T2insFs
c.4_5insT
3 papers
NM_000021.4
p.T2ins1
c.4_5insTAC
1 paper
NM_000021.4
p.T2P
c.4A>C
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