Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.F175L

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
2 papers
NM_000021.4
p.F175L
c.525C>A
Surrounding Variants
2 papers
NM_000021.4
p.F176insFs
c.526dupT
2 papers
NM_000021.4
p.F175L
c.525C>G
16 papers
NM_000021.4
p.F175S
c.524T>C
9 papers
NM_000021.4
p.F176L
c.526T>C
3 papers
NM_000021.4
p.F176V
c.526T>G
1 paper
NM_000021.4
p.F175C
c.524T>G
1 paper
NM_000021.4
p.F176_F179Fs
c.526_537delinsCAFs
2 papers
NM_000021.4
p.F175L
c.523T>C
1 paper
NM_000021.4
p.F176C
c.527T>G
1 paper
NM_000021.4
p.F175fs
c.523_524fs
4 papers
NM_000021.4
p.F175del1
c.523_524delTTC
9 papers
NM_000021.4
p.F176L
c.528T>A
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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."