Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.G394V

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
10 papers
NM_000021.4
p.G394V
c.1181G>T
Surrounding Variants
3 papers
NM_000021.4
p.G394C
c.1180G>T
1 paper
NM_000021.4
p.K395E
c.1183A>G
1 paper
NM_000021.4
p.G394delFs
c.1180delG
1 paper
NM_000021.4
p.G394_S397delFs
c.1180_1190del11
2 papers
NM_000021.4
p.K395R
c.1184A>G
2 papers
NM_000021.4
p.K395I
c.1184A>T
4 papers
NM_000021.4
p.V393F
c.1177G>T
14 papers
NM_000021.4
p.A396T
c.1186G>A
19 papers
NM_000021.4
p.L392P
c.1175T>C
89 papers
NM_000021.4
p.L392V
c.1174C>G
2 papers
NM_000021.4
p.L392L
c.1174C>T
1 paper
NM_000021.4
p.S397P
c.1189T>C
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