Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.E82Q

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.E82Q
c.244G>C
Surrounding Variants
1 paper
NM_001909.5
p.Y80Y
c.240C>T
1 paper
NM_001909.5
p.Y80insFs
c.238_239insG
1 paper
NM_001909.5
p.Q78fs
c.232_233fs
1 paper
NM_001909.5
p.A77A
c.231C>T
1 paper
NM_001909.5
p.A77_Q78insFs
c.231_232insT
1 paper
NM_001909.5
p.P88S
c.262C>T
1 paper
NM_001909.5
p.P89L
c.266C>T
3 papers
NM_001909.5
p.Q90fs
c.268_269fs
8 papers
NM_001909.5
p.Q90insFs
c.268_269insC
6 papers
NM_001909.5
p.Q90fs
c.268_269fs
5 papers
NM_001909.5
p.V95I
c.283G>A
1 paper
NM_001909.5
p.T98T
c.294G>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."