Varaico: Literature-Extracted Genetic Variants

Gene:CTSF
Variant:p.S139L

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.S139L
c.416C>T
Surrounding Variants
3 papers
NM_003793.4
p.S139*
c.416C>G
3 papers
NM_003793.4
p.S139*
c.416C>A
1 paper
NM_003793.4
p.A140G
c.419C>G
1 paper
NM_003793.4
p.A146P
c.436G>C
1 paper
NM_003793.4
p.D128V
c.383A>T
1 paper
NM_003793.4
p.L151L
c.451C>T
1 paper
NM_003793.4
p.S152_P156delFs
c.456_466del11
1 paper
NM_003793.4
p.D157fs
c.469_470fs
1 paper
NM_003793.4
p.D157delFs
c.471delG
2 papers
NM_003793.4
p.T162insFs
c.485_486insC
1 paper
NM_003793.4
p.F163L
c.487T>C
1 paper
NM_003793.4
p.F163L
c.489C>G
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