Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.V444insFs

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.V444insFs
c.1330_1331insCC
Surrounding Variants
1 paper
NM_000021.4
p.V444A
c.1331T>C
1 paper
NM_000021.4
p.L443V
c.1327C>G
2 papers
NM_000021.4
p.F445C
c.1334T>G
1 paper
NM_000021.4
p.G442V
c.1325G>T
1 paper
NM_000021.4
p.Y446H
c.1336T>C
4 papers
NM_000021.4
p.Y446C
c.1337A>G
5 papers
NM_000021.4
p.F441L
c.1323T>A
4 papers
NM_000021.4
p.F441L
c.1323T>G
2 papers
NM_000021.4
p.F441C
c.1322T>G
5 papers
NM_000021.4
p.F441L
c.1321T>C
1 paper
NM_000021.4
p.F441V
c.1321T>G
3 papers
NM_000021.4
p.F447C
c.1340T>G
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