Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.M84T

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
4 papers
NM_000021.4
p.M84T
c.251T>C
Surrounding Variants
3 papers
NM_000021.4
p.M84K
c.251T>A
1 paper
NM_000021.4
p.M84_L85insT
c.250_254ins3
1 paper
NM_000021.4
p.M84L
c.250A>C
16 papers
NM_000021.4
p.M84V
c.250A>G
1 paper
NM_000021.4
p.M84L
c.250A>T
1 paper
NM_000021.4
p.L85V
c.253C>G
2 papers
NM_000021.4
p.L85F
c.253C>T
2 papers
NM_000021.4
p.M84del1
c.250_251delATG
35 papers
NM_000021.4
p.L85P
c.254T>C
11 papers
NM_000021.4
p.I83T
c.248T>C
1 paper
NM_000021.4
p.V82E
c.245T>A
3 papers
NM_000021.4
p.V82A
c.245T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."