Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.A398T

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.A398T
c.1192G>A
Surrounding Variants
1 paper
NM_000021.4
p.S397P
c.1189T>C
3 papers
NM_000021.4
p.S397A
c.1189T>G
14 papers
NM_000021.4
p.A396T
c.1186G>A
2 papers
NM_000021.4
p.A400T
c.1198G>A
2 papers
NM_000021.4
p.K395R
c.1184A>G
2 papers
NM_000021.4
p.K395I
c.1184A>T
3 papers
NM_000021.4
p.S401R
c.1201A>C
1 paper
NM_000021.4
p.K395E
c.1183A>G
1 paper
NM_000021.4
p.S401C
c.1201A>T
10 papers
NM_000021.4
p.G394V
c.1181G>T
3 papers
NM_000021.4
p.S401R
c.1203T>A
3 papers
NM_000021.4
p.S401R
c.1203T>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."