Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.F177L

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
16 papers
NM_000021.4
p.F177L
c.531T>A
Surrounding Variants
16 papers
NM_000021.4
p.F177L
c.531T>G
17 papers
NM_000021.4
p.F177S
c.530T>C
8 papers
NM_000021.4
p.S178P
c.532T>C
1 paper
NM_000021.4
p.F177C
c.530T>G
1 paper
NM_000021.4
p.S178A
c.532T>G
2 papers
NM_000021.4
p.S178fs
c.532_533fs
1 paper
NM_000021.4
p.S178*
c.533C>G
16 papers
NM_000021.4
p.F177L
c.529T>C
7 papers
NM_000021.4
p.F177V
c.529T>G
9 papers
NM_000021.4
p.F176L
c.528T>A
9 papers
NM_000021.4
p.F176L
c.528T>G
1 paper
NM_000021.4
p.F176C
c.527T>G
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