Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.M233T

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
94 papers
NM_000021.4
p.M233T
c.698T>C
Surrounding Variants
46 papers
NM_000021.4
p.M233L
c.697A>C
46 papers
NM_000021.4
p.M233V
c.697A>G
45 papers
NM_000021.4
p.M233L
c.697A>T
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
1 paper
NM_000021.4
p.A234_L235ins0
c.702_704dupCCT
3 papers
NM_000021.4
p.L232H
c.695T>A
14 papers
NM_000021.4
p.L232P
c.695T>C
9 papers
NM_000021.4
p.L232F
c.694C>T
29 papers
NM_000021.4
p.L235V
c.703C>G
22 papers
NM_000021.4
p.A231V
c.692C>T
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