Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.K380E

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
2 papers
NM_000021.4
p.K380E
c.1138A>G
Surrounding Variants
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
33 papers
NM_000021.4
p.L381V
c.1141C>G
9 papers
NM_000021.4
p.L381F
c.1141C>T
1 paper
NM_000021.4
p.V379fs
c.1135_1136fs
31 papers
NM_000021.4
p.G378E
c.1133G>A
3 papers
NM_000021.4
p.G378A
c.1133G>C
14 papers
NM_000021.4
p.G378V
c.1133G>T
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
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