Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.M270delFs

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.M270delFs
c.808_809delAT
Surrounding Variants
70 papers
NM_000021.4
p.R269H
c.806G>A
22 papers
NM_000021.4
p.R269G
c.805C>G
3 papers
NM_000021.4
p.R269C
c.805C>T
1 paper
NM_000021.4
p.R269R
c.807T>C
3 papers
NM_000021.4
p.M270L
c.808A>C
2 papers
NM_000021.4
p.M270V
c.808A>G
3 papers
NM_000021.4
p.M270L
c.808A>T
3 papers
NM_000021.4
p.L268P
c.803T>C
1 paper
NM_000021.4
p.L268V
c.802C>G
1 paper
NM_000021.4
p.L268F
c.802C>T
47 papers
NM_000021.4
p.L271V
c.811C>G
1 paper
NM_000021.4
p.L271delFs
c.812_813delTG
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