Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L173S

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
3 papers
NM_000021.4
p.L173S
c.518T>C
Surrounding Variants
2 papers
NM_000021.4
p.L173*
c.518T>A
22 papers
NM_000021.4
p.L173W
c.518T>G
25 papers
NM_000021.4
p.L173F
c.519G>C
25 papers
NM_000021.4
p.L173F
c.519G>T
2 papers
NM_000021.4
p.L173V
c.517T>G
9 papers
NM_000021.4
p.L174del1
c.520_521delCTG
24 papers
NM_000021.4
p.L174M
c.520C>A
1 paper
NM_000021.4
p.L172F
c.516G>C
1 paper
NM_000021.4
p.L172S
c.515T>C
1 paper
NM_000021.4
p.L174P
c.521T>C
14 papers
NM_000021.4
p.L174R
c.521T>G
3 papers
NM_000021.4
p.L172W
c.515T>G
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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."