Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L172W

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.L172W
c.515T>G
Surrounding Variants
1 paper
NM_000021.4
p.L172S
c.515T>C
1 paper
NM_000021.4
p.L172F
c.516G>C
1 paper
NM_000021.4
p.L172M
c.514T>A
1 paper
NM_000021.4
p.L173del1
c.517_519delTTG
2 papers
NM_000021.4
p.L173V
c.517T>G
9 papers
NM_000021.4
p.L174del1
c.520_521delCTG
2 papers
NM_000021.4
p.L173*
c.518T>A
23 papers
NM_000021.4
p.L171P
c.512T>C
3 papers
NM_000021.4
p.L173S
c.518T>C
22 papers
NM_000021.4
p.L173W
c.518T>G
2 papers
NM_000021.4
p.L171I
c.511C>A
3 papers
NM_000021.4
p.L171L
c.511C>T
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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."