Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I227V

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
4 papers
NM_000021.4
p.I227V
c.679A>G
Surrounding Variants
1 paper
NM_000021.4
p.I227_M228insT
c.679_683ins3
5 papers
NM_000021.4
p.I227L
c.679A>C
1 paper
NM_000021.4
p.I227_I229del0
c.681_686del6
22 papers
NM_000021.4
p.L226R
c.677T>G
1 paper
NM_000021.4
p.L226insFs
c.676_677insA
2 papers
NM_000021.4
p.L226V
c.676C>G
39 papers
NM_000021.4
p.L226F
c.676C>T
1 paper
NM_000021.4
p.Y225C
c.674A>G
1 paper
NM_000021.4
p.M228I
c.684G>A
17 papers
NM_000021.4
p.I229F
c.685A>T
1 paper
NM_000021.4
p.I229T
c.686T>C
3 papers
NM_000021.4
p.A224V
c.671C>T
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