Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.A136G

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
11 papers
NM_000021.4
p.A136G
c.407C>G
Surrounding Variants
5 papers
NM_000021.4
p.A136V
c.407C>T
1 paper
NM_000021.4
p.A136T
c.406G>A
5 papers
NM_000021.4
p.A137T
c.409G>A
1 paper
NM_000021.4
p.A137P
c.409G>C
35 papers
NM_000021.4
p.N135S
c.404A>G
2 papers
NM_000021.4
p.N135I
c.404A>T
29 papers
NM_000021.4
p.N135D
c.403A>G
8 papers
NM_000021.4
p.N135Y
c.403A>T
1 paper
NM_000021.4
p.A137_I138ins1
c.411_412insCTA
1 paper
NM_000021.4
p.L134L
c.402G>A
1 paper
NM_000021.4
p.L134L
c.402G>C
1 paper
NM_000021.4
p.L134L
c.402G>T
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