Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.T136S

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.T136S
c.406A>T
Surrounding Variants
1 paper
NM_001909.5
p.T136A
c.406A>G
1 paper
NM_001909.5
p.T136S
c.407C>G
1 paper
NM_001909.5
p.S137S
c.411G>A
1 paper
NM_001909.5
p.K133delFs
c.397_398delTT
1 paper
NM_001909.5
p.V132delFs
c.395_396delCA
1 paper
NM_001909.5
p.Y131C
c.392A>G
1 paper
NM_001909.5
p.Y131insFs
c.391_392ins4
1 paper
NM_001909.5
p.H141L
c.422A>T
1 paper
NM_001909.5
p.H141R
c.422A>G
1 paper
NM_001909.5
p.T130I
c.389C>T
1 paper
NM_001909.5
p.K127_S128ins1
c.381_382insATC
2 papers
NM_001909.5
p.G145V
c.434G>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."