Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.V39I

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.V39I
c.115G>A
Surrounding Variants
1 paper
NM_001909.5
p.S37delFs
c.111delC
1 paper
NM_001909.5
p.S37L
c.110C>T
1 paper
NM_001909.5
p.V43A
c.128T>C
1 paper
NM_001909.5
p.R34fs
c.100_101fs
1 paper
NM_001909.5
p.R33_R34insFs
c.99_100insT
1 paper
NM_001909.5
p.R33C
c.97C>T
1 paper
NM_001909.5
p.D45A
c.134A>C
1 paper
NM_001909.5
p.D45D
c.135C>T
1 paper
NM_001909.5
p.I47V
c.139A>G
2 papers
NM_001909.5
p.K28_F29insFs
c.84_85insG
1 paper
NM_001909.5
p.F29V
c.85T>G
1 paper
NM_001909.5
p.G50D
c.149G>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."