Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.F411L

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.F411L
c.1233C>G
Surrounding Variants
1 paper
NM_000021.4
p.F411L
c.1233C>A
20 papers
NM_000021.4
p.V412I
c.1234G>A
5 papers
NM_000021.4
p.F411Y
c.1232T>A
1 paper
NM_000021.4
p.F411S
c.1232T>C
1 paper
NM_000021.4
p.F411C
c.1232T>G
1 paper
NM_000021.4
p.V412_A413del0
c.1234_1239del6
1 paper
NM_000021.4
p.F411I
c.1231T>A
1 paper
NM_000021.4
p.F411L
c.1231T>C
1 paper
NM_000021.4
p.F411V
c.1231T>G
1 paper
NM_000021.4
p.F411_V412insCTA
c.1231_1235ins9
141 papers
NM_000021.4
p.C410Y
c.1229G>A
1 paper
NM_000021.4
p.C410S
c.1229G>C
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