Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.M1L

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.M1L
c.1A>C
Surrounding Variants
1 paper
NM_000021.4
p.M1insFs
c.1_2ins8
1 paper
NM_000021.4
p.M1insFs
c.2dupT
3 papers
NM_000021.4
p.M1V
c.1A>G
1 paper
NM_000021.4
p.M1L
c.1A>T
1 paper
NM_000021.4
p.M1K
c.2T>A
5 papers
NM_000021.4
p.M1T
c.2T>C
1 paper
NM_000021.4
p.M1R
c.2T>G
2 papers
NM_000021.4
p.M1_T2insFs
c.3_4insG
4 papers
NM_000021.4
p.M1I
c.3G>A
2 papers
NM_000021.4
p.M1I
c.3G>C
2 papers
NM_000021.4
p.M1_T2insFs
c.3_4insT
3 papers
NM_000021.4
p.M1I
c.3G>T
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