Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L424P

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
6 papers
NM_000021.4
p.L424P
c.1271T>C
Surrounding Variants
20 papers
NM_000021.4
p.L424H
c.1271T>A
24 papers
NM_000021.4
p.L424R
c.1271T>G
8 papers
NM_000021.4
p.L424V
c.1270C>G
7 papers
NM_000021.4
p.L424F
c.1270C>T
25 papers
NM_000021.4
p.A426P
c.1276G>C
3 papers
NM_000021.4
p.I427V
c.1279A>G
3 papers
NM_000021.4
p.T421I
c.1262C>T
4 papers
NM_000021.4
p.T421A
c.1261A>G
1 paper
NM_000021.4
p.T421delFs
c.1262delC
1 paper
NM_000021.4
p.F428_K430del3
c.1282_1289del9
2 papers
NM_000021.4
p.F428Y
c.1283T>A
1 paper
NM_000021.4
p.L420P
c.1259T>C
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