Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.V62M

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.V62M
c.184G>A
Surrounding Variants
1 paper
NM_000021.4
p.Q61Q
c.183G>A
1 paper
NM_000021.4
p.Q61H
c.183G>C
1 paper
NM_000021.4
p.V62V
c.186G>A
1 paper
NM_000021.4
p.V63M
c.187G>A
1 paper
NM_000021.4
p.V63E
c.188T>A
2 papers
NM_000021.4
p.V63A
c.188T>C
1 paper
NM_000021.4
p.V63V
c.189G>T
1 paper
NM_000021.4
p.E64*
c.190G>T
1 paper
NM_000021.4
p.E64A
c.191A>C
1 paper
NM_000021.4
p.E64D
c.192G>C
1 paper
NM_000021.4
p.Q65K
c.193C>A
1 paper
NM_000021.4
p.S59P
c.175T>C
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