Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.Y255*

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
7 papers
NM_001909.5
p.Y255*
c.765C>G
Surrounding Variants
9 papers
NM_001909.5
p.Y255insFs
c.764dupA
7 papers
NM_001909.5
p.Y255*
c.765C>A
1 paper
NM_001909.5
p.Y254S
c.761A>C
1 paper
NM_001909.5
p.Y254H
c.760T>C
1 paper
NM_001909.5
p.K253del1
c.757_759delCTT
1 paper
NM_001909.5
p.K253R
c.758A>G
1 paper
NM_001909.5
p.K253fs
c.757_758fs
1 paper
NM_001909.5
p.K253insFs
c.757_758insC
1 paper
NM_001909.5
p.D251N
c.751G>A
1 paper
NM_001909.5
p.S260S
c.780C>G
1 paper
NM_001909.5
p.G248insFs
c.742dupG
1 paper
NM_001909.5
p.Y255_L262del0
c.765_785del21
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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."