Varaico: Literature-Extracted Genetic Variants

Gene:CTSF
Variant:p.A72fs

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.A72fs
c.214_215fs
Surrounding Variants
1 paper
NM_003793.4
p.A72delFs
c.215delG
1 paper
NM_003793.4
p.G73ins1
c.218_219insCCC
2 papers
NM_003793.4
p.G73G
c.219T>C
1 paper
NM_003793.4
p.R71_A72Splc
c.214-6C>T
1 paper
NM_003793.4
p.S76A
c.226T>G
1 paper
NM_003793.4
p.S76S
c.228G>A
1 paper
NM_003793.4
p.S79F
c.236C>T
1 paper
NM_003793.4
p.A82fs
c.244_245fs
1 paper
NM_003793.4
p.A82insFs
c.244dupG
2 papers
NM_003793.4
p.T83I
c.248C>T
1 paper
NM_003793.4
p.P88delFs
c.264delG
1 paper
NM_003793.4
p.C89fs
c.265_266fs
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