Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.F86C

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.F86C
c.257T>G
Surrounding Variants
1 paper
NM_000021.4
p.V87I
c.259G>A
35 papers
NM_000021.4
p.L85P
c.254T>C
1 paper
NM_000021.4
p.L85V
c.253C>G
3 papers
NM_000021.4
p.V87V
c.261C>T
2 papers
NM_000021.4
p.L85F
c.253C>T
2 papers
NM_000021.4
p.P88S
c.262C>T
2 papers
NM_000021.4
p.P88H
c.263C>A
3 papers
NM_000021.4
p.P88R
c.263C>G
14 papers
NM_000021.4
p.P88L
c.263C>T
3 papers
NM_000021.4
p.M84K
c.251T>A
4 papers
NM_000021.4
p.M84T
c.251T>C
1 paper
NM_000021.4
p.M84_L85insT
c.250_254ins3
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