Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L235V

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
29 papers
NM_000021.4
p.L235V
c.703C>G
Surrounding Variants
60 papers
NM_000021.4
p.L235P
c.704T>C
15 papers
NM_000021.4
p.L235R
c.704T>G
1 paper
NM_000021.4
p.A234_L235ins0
c.702_704dupCCT
2 papers
NM_000021.4
p.V236M
c.706G>A
16 papers
NM_000021.4
p.M233I
c.699G>A
16 papers
NM_000021.4
p.M233I
c.699G>C
16 papers
NM_000021.4
p.M233I
c.699G>T
6 papers
NM_000021.4
p.V236E
c.707T>A
3 papers
NM_000021.4
p.V236A
c.707T>C
94 papers
NM_000021.4
p.M233T
c.698T>C
46 papers
NM_000021.4
p.M233L
c.697A>C
46 papers
NM_000021.4
p.M233V
c.697A>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."