Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I437V

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
12 papers
NM_000021.4
p.I437V
c.1309A>G
Surrounding Variants
62 papers
NM_000021.4
p.P436Q
c.1307C>A
1 paper
NM_000021.4
p.P436insFs
c.1308dupA
1 paper
NM_000021.4
p.I437M
c.1311C>G
5 papers
NM_000021.4
p.P436L
c.1307C>T
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
1 paper
NM_000021.4
p.S438T
c.1312T>A
8 papers
NM_000021.4
p.S438P
c.1312T>C
2 papers
NM_000021.4
p.S438A
c.1312T>G
7 papers
NM_000021.4
p.S438C
c.1313C>G
1 paper
NM_000021.4
p.S438F
c.1313C>T
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