Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I162S

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.I162S
c.485T>G
Surrounding Variants
1 paper
NM_000021.4
p.H163delFs
c.487delC
1 paper
NM_000021.4
p.H163N
c.487C>A
76 papers
NM_000021.4
p.H163Y
c.487C>T
2 papers
NM_000021.4
p.V161V
c.483C>T
22 papers
NM_000021.4
p.H163P
c.488A>C
151 papers
NM_000021.4
p.H163R
c.488A>G
2 papers
NM_000021.4
p.V161A
c.482T>C
1 paper
NM_000021.4
p.H163Q
c.489T>A
1 paper
NM_000021.4
p.H163Q
c.489T>G
1 paper
NM_000021.4
p.K160_V161Splc
c.481-1G>A
1 paper
NM_000021.4
p.V161del1
c.481_483delGTC
7 papers
NM_000021.4
p.A164V
c.491C>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."