Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.F388Y

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.F388Y
c.1163T>A
Surrounding Variants
9 papers
NM_000021.4
p.F388S
c.1163T>C
2 papers
NM_000021.4
p.F388C
c.1163T>G
5 papers
NM_000021.4
p.F388L
c.1164C>A
5 papers
NM_000021.4
p.F388L
c.1164C>G
5 papers
NM_000021.4
p.F388L
c.1162T>C
5 papers
NM_000021.4
p.Y389H
c.1165T>C
2 papers
NM_000021.4
p.Y389S
c.1166A>C
2 papers
NM_000021.4
p.Y389C
c.1166A>G
2 papers
NM_000021.4
p.Y389F
c.1166A>T
1 paper
NM_000021.4
p.S390insFs
c.1168_1169insGA
1 paper
NM_000021.4
p.Y389_S390insFs
c.1167_1168insGA
1 paper
NM_000021.4
p.S390delFs
c.1168_1169delAG
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