Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L150L

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.L150L
c.448C>T
Surrounding Variants
1 paper
NM_000021.4
p.L150V
c.448C>G
21 papers
NM_000021.4
p.L150P
c.449T>C
1 paper
NM_000021.4
p.L150R
c.449T>G
1 paper
NM_000021.4
p.L150L
c.450G>T
1 paper
NM_000021.4
p.L149P
c.446T>C
1 paper
NM_000021.4
p.L149V
c.445C>G
4 papers
NM_000021.4
p.V151M
c.451G>A
1 paper
NM_000021.4
p.V151E
c.452T>A
1 paper
NM_000021.4
p.V151delFs
c.453delG
1 paper
NM_000021.4
p.V151V
c.453G>A
3 papers
NM_000021.4
p.I148V
c.442A>G
1 paper
NM_000021.4
p.V152I
c.454G>A
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