Varaico: Literature-Extracted Genetic Variants

Gene:CTSF
Variant:p.R467R

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.R467R
c.1401T>C
Surrounding Variants
3 papers
NM_003793.4
p.L465W
c.1394T>G
1 paper
NM_003793.4
p.G470R
c.1408G>C
1 paper
NM_003793.4
p.G470R
c.1408G>A
8 papers
NM_003793.4
p.S480L
c.1439C>T
6 papers
NM_003793.4
p.G458A
c.1373G>C
1 paper
NM_003793.4
p.W457S
c.1370G>C
1 paper
NM_003793.4
p.D456Y
c.1366G>T
1 paper
NM_003793.4
p.K450R
c.1349A>G
1 paper
NM_003793.4
p.P445L
c.1334C>T
1 paper
NM_003793.4
p.G439delFs
c.1316delC
2 papers
NM_003793.4
p.G439fs
c.1315_1316fs
1 paper
NM_003793.4
p.R421L
c.1262G>T
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