Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.S125insFs

CTSD

361 papers

RefSeq Summary

This gene encodes a member of the A1 family of peptidases. The encoded preproprotein is proteolytically processed to generate multiple protein products. These products include the cathepsin D light an...

Pfam Domains

A1_Propeptideaa 23–50UCSCA1 Propeptide
Aspaa 78–409UCSCEukaryotic aspartyl protease

Gene Aliases

HGNC Name

cathepsin D

HGNC Previous Symbol

CPSD

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001909.5
p.S125insFs
c.373_374insC
Surrounding Variants
1 paper
NM_001909.5
p.D126N
c.376G>A
1 paper
NM_001909.5
p.Y123*
c.369C>G
1 paper
NM_001909.5
p.Y123*
c.369C>A
1 paper
NM_001909.5
p.D126A
c.377A>C
1 paper
NM_001909.5
p.Y123F
c.368A>T
1 paper
NM_001909.5
p.K127_S128ins1
c.381_382insATC
1 paper
NM_001909.5
p.K122*
c.364A>T
1 paper
NM_001909.5
p.H120Y
c.358C>T
1 paper
NM_001909.5
p.T130I
c.389C>T
1 paper
NM_001909.5
p.Y131insFs
c.391_392ins4
1 paper
NM_001909.5
p.W118*
c.354G>A
1 paper
NM_001909.5
p.Y131C
c.392A>G
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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."