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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTSK

CTSK

218 papers

RefSeq Summary

The protein encoded by this gene is a lysosomal cysteine proteinase involved in bone remodeling and resorption. This protein, which is a member of the peptidase C1 protein family, is predominantly exp...

Pfam Domains

Inhibitor_I29aa 26–86UCSCCathepsin propeptide inhibitor domain (I29)

Peptidase_C1aa 115–328UCSCPapain family cysteine protease

Gene Aliases

HGNC Name

cathepsin K

HGNC Previous Symbols

CTSO2; PYCD

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 219 variants

33 papers

chr1:150799607 G>A

NM_000396.4

p.R241*

c.721C>T

Peptidase_C1

Exome: 0.0% (AC=94, hom=0)Genome: 0.0% (AC=6, hom=0)233 overlapping SVs

29 papers

chr1:150804203 C>G

NM_000396.4

p.G146R

c.436G>C

Peptidase_C1

Exome: 0.0% (AC=19, hom=0)Genome: 0.0% (AC=2, hom=0)233 overlapping SVs

22 papers

chr1:150799228 G>A

NM_000396.4

p.A277V

c.830C>T

Peptidase_C1

Exome: 0.0% (AC=16, hom=0)Genome: n/a233 overlapping SVs

19 papers

chr1:150806109 C>T

NM_000396.4

p.G79E

c.236G>A

Inhibitor_I29

exact variant not in gnomAD233 overlapping SVs

16 papers

chr1:150806780 A>G

NM_000396.4

p.L9P

c.26T>C

Exome: 0.0% (AC=4, hom=0)Genome: n/a234 overlapping SVs

15 papers

chr1:150796836 C>T

NM_000396.4

p.C318Y

c.953G>A

Peptidase_C1

Exome: 0.0% (AC=17, hom=0)Genome: 0.0% (AC=12, hom=0)233 overlapping SVs

15 papers

chr1:150796799 T>C

NM_000396.4

p.*330W

c.990A>G

exact variant not in gnomAD233 overlapping SVs

14 papers

chr1:150796863 A>G

NM_000396.4

p.L309P

c.926T>C

Peptidase_C1

Exome: 0.0% (AC=5, hom=0)Genome: 0.0% (AC=1, hom=0)233 overlapping SVs

13 papers

chr1:150806209 G>A

NM_000396.4

p.R46W

c.136C>T

Inhibitor_I29

Exome: 0.0% (AC=30, hom=0)Genome: 0.0% (AC=1, hom=0)233 overlapping SVs

13 papers

chr1:150799582 A>G

NM_000396.4

p.I249T

c.746T>C

Peptidase_C1

Exome: 0.0% (AC=40, hom=0)Genome: 0.0% (AC=1, hom=0)233 overlapping SVs

13 papers

chr1:150796855 G>C

NM_000396.4

p.R312G

c.934C>G

Peptidase_C1

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=3, hom=0)233 overlapping SVs

12 papers

chr1:150799693 T>C

NM_000396.4

p.Y212C

c.635A>G

Peptidase_C1

Exome: 0.0% (AC=1, hom=0)Genome: 0.0% (AC=1, hom=0)234 overlapping SVs

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."