Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I416F

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
2 papers
NM_000021.4
p.I416F
c.1246A>T
Surrounding Variants
11 papers
NM_000021.4
p.I416T
c.1247T>C
1 paper
NM_000021.4
p.I416_G417Splc
c.1248+1G>A
2 papers
NM_000021.4
p.I414T
c.1241T>C
1 paper
NM_000021.4
p.I414V
c.1240A>G
1 paper
NM_000021.4
p.A413V
c.1238C>T
1 paper
NM_000021.4
p.A413insFs
c.1238dupC
1 paper
NM_000021.4
p.I416_G417Splc
c.1248+8T>C
20 papers
NM_000021.4
p.V412I
c.1234G>A
1 paper
NM_000021.4
p.F411L
c.1233C>A
1 paper
NM_000021.4
p.F411L
c.1233C>G
5 papers
NM_000021.4
p.F411Y
c.1232T>A
1 paper
NM_000021.4
p.F411S
c.1232T>C
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