Varaico: Literature-Extracted Genetic Variants

Gene:CTSF
Variant:p.I404T

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.I404T
c.1211T>C
Surrounding Variants
1 paper
NM_003793.4
p.Q410_F411Splc
c.1231-2A>G
1 paper
NM_003793.4
p.R413H
c.1238G>A
1 paper
NM_003793.4
p.K389Splc
c.1165+2T>G
4 papers
NM_003793.4
p.G415R
c.1243G>C
4 papers
NM_003793.4
p.G415R
c.1243G>A
2 papers
NM_003793.4
p.I416T
c.1247T>C
1 paper
NM_003793.4
p.L383Q
c.1148T>A
1 paper
NM_003793.4
p.R421L
c.1262G>T
2 papers
NM_003793.4
p.V381M
c.1141G>A
2 papers
NM_003793.4
p.N378S
c.1133A>G
1 paper
NM_003793.4
p.K374delFs
c.1121delT
1 paper
NM_003793.4
p.K374fs
c.1120_1121fs
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