Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I167insFs

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.I167insFs
c.499_500insTC
Surrounding Variants
17 papers
NM_000021.4
p.L166H
c.497T>A
258 papers
NM_000021.4
p.L166P
c.497T>C
26 papers
NM_000021.4
p.L166R
c.497T>G
7 papers
NM_000021.4
p.I168del1
c.502_503delATA
1 paper
NM_000021.4
p.I167_I168ins0
c.501_503dupTAT
11 papers
NM_000021.4
p.L166V
c.496C>G
11 papers
NM_000021.4
p.I167del1
c.499_500delATT
19 papers
NM_000021.4
p.W165C
c.495G>C
19 papers
NM_000021.4
p.W165C
c.495G>T
14 papers
NM_000021.4
p.L166del1
c.496_497delCTT
7 papers
NM_000021.4
p.I168T
c.503T>C
20 papers
NM_000021.4
p.S169del1
c.505_506delTCA
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