Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G384A

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
142 papers
NM_000021.4
p.G384A
c.1151G>C
Surrounding Variants
23 papers
NM_000021.4
p.D385N
c.1153G>A
3 papers
NM_000021.4
p.L383F
c.1149G>C
3 papers
NM_000021.4
p.L383F
c.1149G>T
160 papers
NM_000021.4
p.D385A
c.1154A>C
5 papers
NM_000021.4
p.L383W
c.1148T>G
10 papers
NM_000021.4
p.D385E
c.1155T>A
1 paper
NM_000021.4
p.L383M
c.1147T>A
10 papers
NM_000021.4
p.D385E
c.1155T>G
1 paper
NM_000021.4
p.L383V
c.1147T>G
5 papers
NM_000021.4
p.F386I
c.1156T>A
9 papers
NM_000021.4
p.F386L
c.1156T>C
6 papers
NM_000021.4
p.G382A
c.1145G>C
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