Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.V309A

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.V309A
c.926T>C
Surrounding Variants
1 paper
NM_000021.4
p.S310P
c.928T>C
4 papers
NM_000021.4
p.S310A
c.928T>G
1 paper
NM_000021.4
p.S310F
c.929C>T
1 paper
NM_000021.4
p.R307R
c.921G>A
3 papers
NM_000021.4
p.R307S
c.921G>C
3 papers
NM_000021.4
p.R307S
c.921G>T
1 paper
NM_000021.4
p.R308_S310del3
c.922_929del9
17 papers
NM_000021.4
p.K311R
c.932A>G
1 paper
NM_000021.4
p.N312_K314delFs
c.934_940del7
1 paper
NM_000021.4
p.K311N
c.933A>C
1 paper
NM_000021.4
p.K311N
c.933A>T
1 paper
NM_000021.4
p.Q306*
c.916C>T
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