Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G266V

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.G266V
c.797G>T
Surrounding Variants
21 papers
NM_000021.4
p.G266S
c.796G>A
2 papers
NM_000021.4
p.G266C
c.796G>T
1 paper
NM_000021.4
p.P267T
c.799C>A
5 papers
NM_000021.4
p.P267A
c.799C>G
34 papers
NM_000021.4
p.P267S
c.799C>T
17 papers
NM_000021.4
p.P267L
c.800C>T
1 paper
NM_000021.4
p.L268V
c.802C>G
1 paper
NM_000021.4
p.L268F
c.802C>T
1 paper
NM_000021.4
p.P264P
c.792G>T
2 papers
NM_000021.4
p.P264R
c.791C>G
161 papers
NM_000021.4
p.P264L
c.791C>T
3 papers
NM_000021.4
p.L268P
c.803T>C
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