Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.D387G

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.D387G
c.1160A>G
Surrounding Variants
2 papers
NM_001909.5
p.V388I
c.1162G>A
1 paper
NM_001909.5
p.G386G
c.1158C>T
1 paper
NM_001909.5
p.F389F
c.1167C>T
1 paper
NM_001909.5
p.I390V
c.1168A>G
4 papers
NM_001909.5
p.L385_I390ins2
c.1155_1169dup15
14 papers
NM_001909.5
p.W383C
c.1149G>T
15 papers
NM_001909.5
p.W383C
c.1149G>C
1 paper
NM_001909.5
p.G391S
c.1171G>A
1 paper
NM_001909.5
p.R392H
c.1175G>A
1 paper
NM_001909.5
p.L382F
c.1144C>T
1 paper
NM_001909.5
p.P381_L382insATC
c.1141_1145ins9
1 paper
NM_001909.5
p.G380R
c.1138G>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."