Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.L199L

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
9 papers
NM_001909.5
p.L199L
c.597G>A
Surrounding Variants
1 paper
NM_001909.5
p.L199L
c.595C>T
1 paper
NM_001909.5
p.I198_L199insFs
c.594_595insT
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.M201I
c.603G>A
1 paper
NM_001909.5
p.R205H
c.614G>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.T189P
c.565A>C
1 paper
NM_001909.5
p.I188I
c.564C>T
1 paper
NM_001909.5
p.V211M
c.631G>A
2 papers
NM_001909.5
p.G187A
c.560G>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."