Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.A246P

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
3 papers
NM_000021.4
p.A246P
c.736G>C
Surrounding Variants
2 papers
NM_000021.4
p.A246T
c.736G>A
343 papers
NM_000021.4
p.A246E
c.737C>A
3 papers
NM_000021.4
p.A246V
c.737C>T
2 papers
NM_000021.4
p.W247_V252del6
c.739_755del18
1 paper
NM_000021.4
p.T245I
c.734C>T
1 paper
NM_000021.4
p.T245insFs
c.734_735dupCT
11 papers
NM_000021.4
p.T245P
c.733A>C
1 paper
NM_000021.4
p.W247R
c.739T>A
3 papers
NM_000021.4
p.W247C
c.741G>C
3 papers
NM_000021.4
p.W247C
c.741G>T
1 paper
NM_000021.4
p.L248fs
c.742_743fs
8 papers
NM_000021.4
p.L248P
c.743T>C
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