Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.F105L

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
29 papers
NM_000021.4
p.F105L
c.315T>G
Surrounding Variants
29 papers
NM_000021.4
p.F105L
c.315T>A
2 papers
NM_000021.4
p.F105S
c.314T>C
15 papers
NM_000021.4
p.F105C
c.314T>G
1 paper
NM_000021.4
p.Y106del1
c.316_317delTAT
1 paper
NM_000021.4
p.Y106C
c.317A>G
1 paper
NM_000021.4
p.Y106F
c.317A>T
15 papers
NM_000021.4
p.F105I
c.313T>A
29 papers
NM_000021.4
p.F105L
c.313T>C
11 papers
NM_000021.4
p.F105V
c.313T>G
1 paper
NM_000021.4
p.F105del1
c.313_314delTTT
1 paper
NM_000021.4
p.Y106Y
c.318T>C
1 paper
NM_000021.4
p.T107A
c.319A>G
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