Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.T189P

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.T189P
c.565A>C
Surrounding Variants
1 paper
NM_001909.5
p.I188I
c.564C>T
2 papers
NM_001909.5
p.G187A
c.560G>C
1 paper
NM_001909.5
p.G187S
c.559G>A
1 paper
NM_001909.5
p.A192S
c.574G>T
1 paper
NM_001909.5
p.A192T
c.574G>A
1 paper
NM_001909.5
p.K184delFs
c.552delC
1 paper
NM_001909.5
p.T183N
c.548C>A
1 paper
NM_001909.5
p.E181*
c.541G>T
1 paper
NM_001909.5
p.G180R
c.538G>C
1 paper
NM_001909.5
p.I198F
c.592A>T
1 paper
NM_001909.5
p.I198V
c.592A>G
1 paper
NM_001909.5
p.F179S
c.536T>C
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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."