Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.S230C

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.S230C
c.688A>T
Surrounding Variants
6 papers
NM_000021.4
p.S230R
c.688A>C
9 papers
NM_000021.4
p.S230N
c.689G>A
6 papers
NM_000021.4
p.S230I
c.689G>T
6 papers
NM_000021.4
p.S230R
c.690T>A
1 paper
NM_000021.4
p.I229T
c.686T>C
6 papers
NM_000021.4
p.S230R
c.690T>G
17 papers
NM_000021.4
p.I229F
c.685A>T
17 papers
NM_000021.4
p.A231T
c.691G>A
3 papers
NM_000021.4
p.A231P
c.691G>C
22 papers
NM_000021.4
p.A231V
c.692C>T
1 paper
NM_000021.4
p.M228I
c.684G>A
9 papers
NM_000021.4
p.L232F
c.694C>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."