Varaico: Literature-Extracted Genetic Variants

Gene:CTSF
Variant:p.L318delFs

CTSF

99 papers

RefSeq Summary

Cathepsins are papain family cysteine proteinases that represent a major component of the lysosomal proteolytic system. Cathepsins generally contain a signal sequence, followed by a propeptide and the...

Pfam Domains

Inhibitor_I29aa 187–244UCSCCathepsin propeptide inhibitor domain (I29)
Peptidase_C1aa 271–482UCSCPapain family cysteine protease

Gene Aliases

HGNC Name

cathepsin F

HGNC Alias Symbols

CATSF; CLN13

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_003793.4
p.L318delFs
c.954delG
Surrounding Variants
6 papers
NM_003793.4
p.S319fs
c.955_956fs
1 paper
NM_003793.4
p.L318H
c.953T>A
7 papers
NM_003793.4
p.Q321R
c.962A>G
1 paper
NM_003793.4
p.L310V
c.928C>G
1 paper
NM_003793.4
p.W296*
c.887G>A
1 paper
NM_003793.4
p.M291delFs
c.871_872delAT
2 papers
NM_003793.4
p.C326F
c.977G>T
1 paper
NM_003793.4
p.D327G
c.980A>G
1 paper
NM_003793.4
p.A332G
c.995C>G
1 paper
NM_003793.4
p.A332A
c.996C>G
1 paper
NM_003793.4
p.M334fs
c.1000_1001fs
1 paper
NM_003793.4
p.M334delFs
c.1000delT
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