Varaico: Literature-Extracted Genetic Variants

Gene:CTSF
Variant:p.A264delFs

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.A264delFs
c.792delG
Surrounding Variants
1 paper
NM_003793.4
p.K265fs
c.793_794fs
1 paper
NM_003793.4
p.G268_D269insC
c.802_806ins3
1 paper
NM_003793.4
p.K260E
c.778A>G
1 paper
NM_003793.4
p.E256fs
c.766_767fs
2 papers
NM_003793.4
p.K255insFs
c.764dupA
2 papers
NM_003793.4
p.E256fs
c.766_767fs
1 paper
NM_003793.4
p.R254delFs
c.762delC
2 papers
NM_003793.4
p.R254R
c.762G>A
2 papers
NM_003793.4
p.D276V
c.827A>T
1 paper
NM_003793.4
p.T251P
c.751A>C
1 paper
NM_003793.4
p.A282fs
c.844_845fs
1 paper
NM_003793.4
p.A282delFs
c.844delC
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