Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.N135D

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
29 papers
NM_000021.4
p.N135D
c.403A>G
Surrounding Variants
8 papers
NM_000021.4
p.N135Y
c.403A>T
35 papers
NM_000021.4
p.N135S
c.404A>G
2 papers
NM_000021.4
p.N135I
c.404A>T
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
1 paper
NM_000021.4
p.L134P
c.401T>C
4 papers
NM_000021.4
p.L134R
c.401T>G
1 paper
NM_000021.4
p.A136T
c.406G>A
11 papers
NM_000021.4
p.A136G
c.407C>G
5 papers
NM_000021.4
p.A136V
c.407C>T
1 paper
NM_000021.4
p.I133I
c.399T>C
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