Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.I211M

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
5 papers
NM_000021.4
p.I211M
c.633T>G
Surrounding Variants
1 paper
NM_000021.4
p.I211T
c.632T>C
1 paper
NM_000021.4
p.S212A
c.634T>G
1 paper
NM_000021.4
p.S212fs
c.634_635fs
19 papers
NM_000021.4
p.S212Y
c.635C>A
1 paper
NM_000021.4
p.S212C
c.635C>G
9 papers
NM_000021.4
p.I213L
c.637A>C
15 papers
NM_000021.4
p.I213F
c.637A>T
2 papers
NM_000021.4
p.M210R
c.629T>G
51 papers
NM_000021.4
p.I213T
c.638T>C
1 paper
NM_000021.4
p.I213S
c.638T>G
1 paper
NM_000021.4
p.I213I
c.639T>A
7 papers
NM_000021.4
p.H214N
c.640C>A
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