Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.V272A

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
32 papers
NM_000021.4
p.V272A
c.815T>C
Surrounding Variants
4 papers
NM_000021.4
p.V272D
c.815T>A
1 paper
NM_000021.4
p.V272I
c.814G>A
1 paper
NM_000021.4
p.V272L
c.814G>C
1 paper
NM_000021.4
p.E273delFs
c.817_818delGA
2 papers
NM_000021.4
p.E273K
c.817G>A
1 paper
NM_000021.4
p.E273delins
c.817_818delinsCT
21 papers
NM_000021.4
p.E273A
c.818A>C
5 papers
NM_000021.4
p.E273G
c.818A>G
1 paper
NM_000021.4
p.L271R
c.812T>G
1 paper
NM_000021.4
p.E273D
c.819A>C
47 papers
NM_000021.4
p.L271V
c.811C>G
1 paper
NM_000021.4
p.L271delFs
c.812_813delTG
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."