Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L435R

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
5 papers
NM_000021.4
p.L435R
c.1304T>G
Surrounding Variants
3 papers
NM_000021.4
p.L435H
c.1304T>A
3 papers
NM_000021.4
p.L435I
c.1303C>A
3 papers
NM_000021.4
p.L435V
c.1303C>G
82 papers
NM_000021.4
p.L435F
c.1303C>T
1 paper
NM_000021.4
p.P436_I437delFs
c.1306_1309del4
2 papers
NM_000021.4
p.P436T
c.1306C>A
2 papers
NM_000021.4
p.P436A
c.1306C>G
25 papers
NM_000021.4
p.P436S
c.1306C>T
62 papers
NM_000021.4
p.P436Q
c.1307C>A
5 papers
NM_000021.4
p.A434D
c.1301C>A
1 paper
NM_000021.4
p.P436insFs
c.1308dupA
1 paper
NM_000021.4
p.A434G
c.1301C>G
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