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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTSB

CTSB

265 papers

RefSeq Summary

This gene encodes a member of the C1 family of peptidases. Alternative splicing of this gene results in multiple transcript variants. At least one of these variants encodes a preproprotein that is pro...

Pfam Domains

Propeptide_C1aa 26–65UCSCPeptidase family C1 propeptide

Peptidase_C1aa 80–329UCSCPapain family cysteine protease

Gene Aliases

HGNC Name

cathepsin B

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 309 variants

42 papers

chr8:11853379 G>C

NM_001908.5

p.L26V

c.76C>G

Propeptide_C1

Exome: 38.4% (AC=560911, hom=108724)Genome: 37.1% (AC=55766, hom=10433)29 overlapping SVs

17 papers

chr8:11852665 T>C

NM_001908.5

p.S53G

c.157A>G

Propeptide_C1

Exome: 12.6% (AC=184744, hom=12899)Genome: 9.7% (AC=14728, hom=879)29 overlapping SVs

7 papers

chr8:11845144 T>G

NM_001908.5

p.Q334P

c.1001A>C

Exome: 0.2% (AC=2301, hom=34)Genome: 0.2% (AC=366, hom=5)28 overlapping SVs

6 papers

chr8:11850912 G>A

NM_001908.5

p.P94L

c.281C>T

Peptidase_C1

Exome: 0.2% (AC=3561, hom=3)Genome: 0.1% (AC=223, hom=0)30 overlapping SVs

6 papers

chr8:11847108 T>G

NM_001908.5

p.N246T

c.737A>C

Peptidase_C1

Exome: 0.2% (AC=2679, hom=8)Genome: 0.4% (AC=543, hom=1)29 overlapping SVs

5 papers

chr8:11845769 C>G

NM_001908.5

p.G272R

c.814G>C

Peptidase_C1

Exome: 0.0% (AC=1, hom=0)Genome: n/a29 overlapping SVs

5 papers

chr8:11845769 C>T

NM_001908.5

p.G272R

c.814G>A

Peptidase_C1

Exome: 0.0% (AC=43, hom=0)Genome: 0.0% (AC=3, hom=0)29 overlapping SVs

3 papers

chr8:11852608 A>G

NM_001908.5

p.R71Splc

c.212+2T>C

exact variant not in gnomAD29 overlapping SVs

3 papers

chr8:11849127 C>T

NM_001908.5

p.C122Y

c.365G>A

Peptidase_C1

exact variant not in gnomAD28 overlapping SVs

3 papers

chr8:11847778 C>T

NM_001908.5

p.G193S

c.577G>A

Peptidase_C1

Exome: 0.0% (AC=15, hom=0)Genome: 0.0% (AC=3, hom=0)28 overlapping SVs

3 papers

chr8:11847697 T>C

NM_001908.5

p.K220E

c.658A>G

Peptidase_C1

Exome: 0.0% (AC=76, hom=1)Genome: 0.0% (AC=10, hom=0)28 overlapping SVs

3 papers

chr8:11847141 C>T

NM_001908.5

p.S235N

c.704G>A

Peptidase_C1

Exome: 0.5% (AC=6653, hom=372)Genome: 4.3% (AC=5985, hom=365)29 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."