Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.H214P

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.H214P
c.641A>C
Surrounding Variants
9 papers
NM_000021.4
p.H214R
c.641A>G
7 papers
NM_000021.4
p.H214N
c.640C>A
11 papers
NM_000021.4
p.H214D
c.640C>G
22 papers
NM_000021.4
p.H214Y
c.640C>T
1 paper
NM_000021.4
p.I213I
c.639T>A
1 paper
NM_000021.4
p.W215R
c.643T>A
1 paper
NM_000021.4
p.W215R
c.643T>C
51 papers
NM_000021.4
p.I213T
c.638T>C
1 paper
NM_000021.4
p.I213S
c.638T>G
9 papers
NM_000021.4
p.I213L
c.637A>C
15 papers
NM_000021.4
p.I213F
c.637A>T
1 paper
NM_000021.4
p.W215C
c.645G>C
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