Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.E72insFs

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.E72insFs
c.216dupG
Surrounding Variants
1 paper
NM_000021.4
p.E72G
c.215A>G
2 papers
NM_000021.4
p.E72K
c.214G>A
2 papers
NM_000021.4
p.E71G
c.212A>G
2 papers
NM_000021.4
p.E71K
c.211G>A
1 paper
NM_000021.4
p.L73L
c.219G>A
2 papers
NM_000021.4
p.L73L
c.219G>C
3 papers
NM_000021.4
p.L73L
c.219G>T
2 papers
NM_000021.4
p.T74A
c.220A>G
1 paper
NM_000021.4
p.D70G
c.209A>G
2 papers
NM_000021.4
p.T74I
c.221C>T
1 paper
NM_000021.4
p.T74T
c.222A>T
2 papers
NM_000021.4
p.D70N
c.208G>A
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