Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.P49T

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.P49T
c.145C>A
Surrounding Variants
2 papers
NM_000021.4
p.P49A
c.145C>G
1 paper
NM_000021.4
p.P49S
c.145C>T
1 paper
NM_000021.4
p.P49R
c.146C>G
6 papers
NM_000021.4
p.P49L
c.146C>T
2 papers
NM_000021.4
p.E48K
c.142G>A
1 paper
NM_000021.4
p.E48*
c.142G>T
2 papers
NM_000021.4
p.L50I
c.148T>A
1 paper
NM_000021.4
p.P47P
c.141T>A
2 papers
NM_000021.4
p.S51A
c.151T>G
3 papers
NM_000021.4
p.H46R
c.137A>G
1 paper
NM_000021.4
p.N52Y
c.154A>T
2 papers
NM_000021.4
p.H46Y
c.136C>T
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