Varaico: Literature-Extracted Genetic Variants

Gene:CTSF
Variant:p.I345V

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
1 paper
NM_003793.4
p.I345V
c.1033A>G
Surrounding Variants
1 paper
NM_003793.4
p.S343L
c.1028C>T
1 paper
NM_003793.4
p.N340S
c.1019A>G
1 paper
NM_003793.4
p.M334delFs
c.1000delT
1 paper
NM_003793.4
p.M334fs
c.1000_1001fs
1 paper
NM_003793.4
p.A332A
c.996C>G
1 paper
NM_003793.4
p.A332G
c.995C>G
1 paper
NM_003793.4
p.D327G
c.980A>G
2 papers
NM_003793.4
p.C326F
c.977G>T
1 paper
NM_003793.4
p.G349Splc
c.1045+70G>T
7 papers
NM_003793.4
p.Q321R
c.962A>G
3 papers
NM_003793.4
p.L318delFs
c.954delG
6 papers
NM_003793.4
p.S319fs
c.955_956fs
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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."