Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.V103_S104del1

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.V103_S104del1
c.308_310delTCA
Surrounding Variants
2 papers
NM_000021.4
p.V103D
c.308T>A
1 paper
NM_000021.4
p.V103A
c.308T>C
4 papers
NM_000021.4
p.V103G
c.308T>G
2 papers
NM_000021.4
p.S104G
c.310A>G
1 paper
NM_000021.4
p.S104C
c.310A>T
2 papers
NM_000021.4
p.S102A
c.304T>G
1 paper
NM_000021.4
p.F105del1
c.313_314delTTT
1 paper
NM_000021.4
p.K101*
c.301A>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
2 papers
NM_000021.4
p.F105S
c.314T>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."