Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G378*

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
1 paper
NM_000021.4
p.G378*
c.1132G>T
Surrounding Variants
6 papers
NM_000021.4
p.G378R
c.1132G>A
6 papers
NM_000021.4
p.G378R
c.1132G>C
6 papers
NM_000021.4
p.G378fs
c.1132_1133fs
31 papers
NM_000021.4
p.G378E
c.1133G>A
3 papers
NM_000021.4
p.G378A
c.1133G>C
1 paper
NM_000021.4
p.G378_V379insFs
c.1132_1136dup5
14 papers
NM_000021.4
p.G378V
c.1133G>T
1 paper
NM_000021.4
p.R377K
c.1130G>A
2 papers
NM_000021.4
p.R377T
c.1130G>C
3 papers
NM_000021.4
p.R377M
c.1130G>T
1 paper
NM_000021.4
p.V379fs
c.1135_1136fs
3 papers
NM_000021.4
p.G378insFs
c.1133_1134insG
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