Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.W104R

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.W104R
c.310T>C
Surrounding Variants
1 paper
NM_001909.5
p.W104R
c.310T>A
1 paper
NM_001909.5
p.L103delFs
c.307_308delAG
1 paper
NM_001909.5
p.P106S
c.316C>T
1 paper
NM_001909.5
p.P106A
c.316C>G
1 paper
NM_001909.5
p.P106P
c.318C>A
3 papers
NM_001909.5
p.V105insFs
c.315dupC
10 papers
NM_001909.5
p.S100F
c.299C>T
2 papers
NM_001909.5
p.S100P
c.298T>C
1 paper
NM_001909.5
p.G99_S100insT
c.295_299ins3
1 paper
NM_001909.5
p.T98T
c.294G>A
1 paper
NM_001909.5
p.L112L
c.334C>T
5 papers
NM_001909.5
p.V95I
c.283G>A
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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."