Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.A268V

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.A268V
c.803C>T
Surrounding Variants
3 papers
NM_001909.5
p.A268_Y269insC
c.802_806ins3
1 paper
NM_001909.5
p.A268T
c.802G>A
1 paper
NM_001909.5
p.A268A
c.804C>T
1 paper
NM_001909.5
p.K267E
c.799A>G
2 papers
NM_001909.5
p.R266H
c.797G>A
1 paper
NM_001909.5
p.V272A
c.815T>C
1 paper
NM_001909.5
p.H273insFs
c.817dupC
1 paper
NM_001909.5
p.Y255_L262del0
c.765_785del21
1 paper
NM_001909.5
p.S260S
c.780C>G
1 paper
NM_001909.5
p.Q276K
c.826C>A
7 papers
NM_001909.5
p.Y255*
c.765C>G
9 papers
NM_001909.5
p.Y255insFs
c.764dupA
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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."