Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L420P

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.L420P
c.1259T>C
Surrounding Variants
19 papers
NM_000021.4
p.L420R
c.1259T>G
4 papers
NM_000021.4
p.T421A
c.1261A>G
1 paper
NM_000021.4
p.T421delFs
c.1262delC
3 papers
NM_000021.4
p.T421I
c.1262C>T
1 paper
NM_000021.4
p.C419Y
c.1256G>A
1 paper
NM_000021.4
p.C419S
c.1256G>C
1 paper
NM_000021.4
p.C419S
c.1255T>A
1 paper
NM_000021.4
p.C419G
c.1255T>G
1 paper
NM_000021.4
p.C419_T421insFs
c.1256_1263dup8
12 papers
NM_000021.4
p.L418F
c.1254G>C
12 papers
NM_000021.4
p.L418F
c.1254G>T
4 papers
NM_000021.4
p.L418W
c.1253T>G
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