Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G382A

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
6 papers
NM_000021.4
p.G382A
c.1145G>C
Surrounding Variants
1 paper
NM_000021.4
p.G382V
c.1145G>T
1 paper
NM_000021.4
p.G382delFs
c.1146delA
1 paper
NM_000021.4
p.L383M
c.1147T>A
1 paper
NM_000021.4
p.L383V
c.1147T>G
5 papers
NM_000021.4
p.L383W
c.1148T>G
33 papers
NM_000021.4
p.L381V
c.1141C>G
9 papers
NM_000021.4
p.L381F
c.1141C>T
3 papers
NM_000021.4
p.L383F
c.1149G>C
3 papers
NM_000021.4
p.L383F
c.1149G>T
2 papers
NM_000021.4
p.K380R
c.1139A>G
1 paper
NM_000021.4
p.K380_L381delFs
c.1140_1143del4
1 paper
NM_000021.4
p.K380_F388delFs
c.1140_1162del23
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