Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.F428Y

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
2 papers
NM_000021.4
p.F428Y
c.1283T>A
Surrounding Variants
1 paper
NM_000021.4
p.F428C
c.1283T>G
1 paper
NM_000021.4
p.F428_K430del3
c.1282_1289del9
3 papers
NM_000021.4
p.I427V
c.1279A>G
25 papers
NM_000021.4
p.A426P
c.1276G>C
3 papers
NM_000021.4
p.A431T
c.1291G>A
114 papers
NM_000021.4
p.A431E
c.1292C>A
1 paper
NM_000021.4
p.A431G
c.1292C>G
10 papers
NM_000021.4
p.A431V
c.1292C>T
1 paper
NM_000021.4
p.L432M
c.1294T>A
20 papers
NM_000021.4
p.L424H
c.1271T>A
6 papers
NM_000021.4
p.L424P
c.1271T>C
24 papers
NM_000021.4
p.L424R
c.1271T>G
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