Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.R41fs

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
2 papers
NM_000021.4
p.R41fs
c.121_122fs
Surrounding Variants
2 papers
NM_000021.4
p.D40E
c.120C>A
2 papers
NM_000021.4
p.D40E
c.120C>G
1 paper
NM_000021.4
p.R41K
c.122G>A
9 papers
NM_000021.4
p.R41S
c.123A>C
1 paper
NM_000021.4
p.D40A
c.119A>C
9 papers
NM_000021.4
p.R41S
c.123A>T
1 paper
NM_000021.4
p.D40V
c.119A>T
1 paper
NM_000021.4
p.R42fs
c.124_125fs
5 papers
NM_000021.4
p.D40N
c.118G>A
1 paper
NM_000021.4
p.R41_R42insFs
c.121_124dup4
2 papers
NM_000021.4
p.R42Q
c.125G>A
2 papers
NM_000021.4
p.R42P
c.125G>C
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