Varaico: Literature-Extracted Genetic Variants

Gene:CTSF
Variant:p.N378S

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
2 papers
NM_003793.4
p.N378S
c.1133A>G
Surrounding Variants
2 papers
NM_003793.4
p.V381M
c.1141G>A
1 paper
NM_003793.4
p.K374delFs
c.1121delT
1 paper
NM_003793.4
p.K374fs
c.1120_1121fs
1 paper
NM_003793.4
p.L383Q
c.1148T>A
1 paper
NM_003793.4
p.K372N
c.1116G>T
1 paper
NM_003793.4
p.K372N
c.1116G>C
1 paper
NM_003793.4
p.K389Splc
c.1165+2T>G
1 paper
NM_003793.4
p.Q364*
c.1090C>T
1 paper
NM_003793.4
p.M363V
c.1087A>G
1 paper
NM_003793.4
p.H362R
c.1085A>G
1 paper
NM_003793.4
p.Y359*
c.1077C>G
1 paper
NM_003793.4
p.Y359*
c.1077C>A
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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."