Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.V214I

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.V214I
c.640G>A
Surrounding Variants
1 paper
NM_001909.5
p.P213P
c.639C>G
1 paper
NM_001909.5
p.F215S
c.644T>C
1 paper
NM_001909.5
p.V211M
c.631G>A
1 paper
NM_001909.5
p.Q220P
c.659A>C
1 paper
NM_001909.5
p.Q221*
c.661C>T
1 paper
NM_001909.5
p.R205H
c.614G>A
1 paper
NM_001909.5
p.M201I
c.603G>A
2 papers
NM_001909.5
p.N227S
c.680A>G
9 papers
NM_001909.5
p.L199L
c.597G>A
20 papers
NM_001909.5
p.F229I
c.685T>A
1 paper
NM_001909.5
p.L199L
c.595C>T
1 paper
NM_001909.5
p.I198_L199insFs
c.594_595insT
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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."