Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.R54Q

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.R54Q
c.161G>A
Surrounding Variants
1 paper
NM_000021.4
p.R54L
c.161G>T
1 paper
NM_000021.4
p.R54R
c.160C>A
2 papers
NM_000021.4
p.R54*
c.160C>T
1 paper
NM_000021.4
p.R54delFs
c.161delG
1 paper
NM_000021.4
p.P55_D66delFs
c.163_197del35
1 paper
NM_000021.4
p.G53E
c.158G>A
1 paper
NM_000021.4
p.P55P
c.165C>A
1 paper
NM_000021.4
p.P55P
c.165C>T
1 paper
NM_000021.4
p.Q56K
c.166C>A
1 paper
NM_000021.4
p.Q56R
c.167A>G
1 paper
NM_000021.4
p.N52Y
c.154A>T
1 paper
NM_000021.4
p.G57R
c.169G>C
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