Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I143T

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
134 papers
NM_000021.4
p.I143T
c.428T>C
Surrounding Variants
9 papers
NM_000021.4
p.I143N
c.428T>A
1 paper
NM_000021.4
p.I143L
c.427A>C
17 papers
NM_000021.4
p.I143V
c.427A>G
51 papers
NM_000021.4
p.I143F
c.427A>T
1 paper
NM_000021.4
p.I143_V144del1
c.428_430delTTG
15 papers
NM_000021.4
p.I143M
c.429T>G
1 paper
NM_000021.4
p.V144I
c.430G>A
1 paper
NM_000021.4
p.V142A
c.425T>C
10 papers
NM_000021.4
p.V142I
c.424G>A
3 papers
NM_000021.4
p.V142F
c.424G>T
1 paper
NM_000021.4
p.S141R
c.423T>A
1 paper
NM_000021.4
p.S141R
c.423T>G
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