Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L173del1

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.L173del1
c.517_519delTTG
Surrounding Variants
1 paper
NM_000021.4
p.L172M
c.514T>A
23 papers
NM_000021.4
p.L171P
c.512T>C
2 papers
NM_000021.4
p.L171I
c.511C>A
3 papers
NM_000021.4
p.L171L
c.511C>T
1 paper
NM_000021.4
p.L171delFs
c.512delT
1 paper
NM_000021.4
p.L172S
c.515T>C
3 papers
NM_000021.4
p.L172W
c.515T>G
1 paper
NM_000021.4
p.L172F
c.516G>C
1 paper
NM_000021.4
p.S170_L171insFs
c.510_511insT
1 paper
NM_000021.4
p.S170_L171ins1
c.510_511insTAT
1 paper
NM_000021.4
p.S170C
c.509C>G
79 papers
NM_000021.4
p.S170F
c.509C>T
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