Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.V52I

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
3 papers
NM_001909.5
p.V52I
c.154G>A
Surrounding Variants
1 paper
NM_001909.5
p.P51S
c.151C>T
1 paper
NM_001909.5
p.S53*
c.158C>G
1 paper
NM_001909.5
p.S53*
c.158C>A
1 paper
NM_001909.5
p.G50D
c.149G>A
1 paper
NM_001909.5
p.K54R
c.161A>G
1 paper
NM_001909.5
p.Y55S
c.164A>C
1 paper
NM_001909.5
p.Y55*
c.165C>G
1 paper
NM_001909.5
p.Y55*
c.165C>A
1 paper
NM_001909.5
p.I47V
c.139A>G
2 papers
NM_001909.5
p.A58_V59insT
c.172_176ins3
27 papers
NM_001909.5
p.A58V
c.173C>T
1 paper
NM_001909.5
p.D45D
c.135C>T
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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."