Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.M146L

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
556 papers
NM_000021.4
p.M146L
c.436A>C
Surrounding Variants
485 papers
NM_000021.4
p.M146V
c.436A>G
556 papers
NM_000021.4
p.M146L
c.436A>T
1 paper
NM_000021.4
p.M146K
c.437T>A
2 papers
NM_000021.4
p.M146T
c.437T>C
72 papers
NM_000021.4
p.M146I
c.438G>A
72 papers
NM_000021.4
p.M146I
c.438G>C
73 papers
NM_000021.4
p.M146I
c.438G>T
8 papers
NM_000021.4
p.T147P
c.439A>C
1 paper
NM_000021.4
p.T147A
c.439A>G
16 papers
NM_000021.4
p.T147I
c.440C>T
3 papers
NM_000021.4
p.I148V
c.442A>G
1 paper
NM_000021.4
p.V144I
c.430G>A
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