Varaico: Literature-Extracted Genetic Variants

Gene:CTSD
Variant:p.F397_D398del2

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.F397_D398del2
c.1189_1193del6
Surrounding Variants
10 papers
NM_001909.5
p.R399H
c.1196G>A
1 paper
NM_001909.5
p.D398A
c.1193A>C
1 paper
NM_001909.5
p.F397S
c.1190T>C
1 paper
NM_001909.5
p.T395_V396del2
c.1183_1187del6
1 paper
NM_001909.5
p.N401fs
c.1201_1202fs
1 paper
NM_001909.5
p.N401S
c.1202A>G
1 paper
NM_001909.5
p.R392H
c.1175G>A
1 paper
NM_001909.5
p.G391S
c.1171G>A
4 papers
NM_001909.5
p.L385_I390ins2
c.1155_1169dup15
1 paper
NM_001909.5
p.I390V
c.1168A>G
1 paper
NM_001909.5
p.F389F
c.1167C>T
2 papers
NM_001909.5
p.V388I
c.1162G>A
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