Varaico: Literature-Extracted Genetic Variants

Gene:CTSF
Variant:p.R44H

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.R44H
c.131G>A
Surrounding Variants
3 papers
NM_003793.4
p.P42P
c.126C>T
1 paper
NM_003793.4
p.A27V
c.80C>T
1 paper
NM_003793.4
p.R66C
c.196C>T
1 paper
NM_003793.4
p.V69G
c.206T>G
6 papers
NM_003793.4
p.R71_A72Splc
c.213+1G>C
1 paper
NM_003793.4
p.M1K
c.2T>A
1 paper
NM_003793.4
p.R71_A72Splc
c.214-6C>T
1 paper
NM_003793.4
p.A72fs
c.214_215fs
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.S76A
c.226T>G
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