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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CASP9

CASP9

385 papers

RefSeq Summary

This gene encodes a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as i...

Pfam Domains

CARDaa 6–92UCSCCaspase recruitment domain

Peptidase_C14aa 160–412UCSCCaspase domain

Gene Aliases

HGNC Name

caspase 9

HGNC Alias Symbols

MCH6; ICE-LAP6; APAF-3; PPP1R56

Papers

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 176 variants

28 papers

chr1:15506048 T>C

NM_001229.5

p.Q221R

c.662A>G

Peptidase_C14

Exome: 53.2% (AC=776981, hom=209501)Genome: 58.7% (AC=89242, hom=26857)54 overlapping SVs

19 papers

chr1:15524169 C>T

NM_001229.5

p.R11Q

c.32G>A

CARD

Exome: 0.0% (AC=0, hom=0)Genome: n/a56 overlapping SVs

19 papers

chr1:15524118 G>A

NM_001229.5

p.A28V

c.83C>T

CARD

Exome: 53.0% (AC=734459, hom=197208)Genome: 58.6% (AC=89003, hom=26741)56 overlapping SVs

12 papers

chr1:15507011 C>T

NM_001229.5

p.R173H

c.518G>A

Peptidase_C14

Exome: 1.2% (AC=18031, hom=159)Genome: 1.1% (AC=1643, hom=15)54 overlapping SVs

11 papers

chr1:15518241 G>T

NM_001229.5

p.A96E

c.287C>A

exact variant not in gnomAD55 overlapping SVs

8 papers

chr1:15524108 G>A

NM_001229.5

p.S31S

c.93C>T

CARD

Exome: 21.9% (AC=303378, hom=34768)Genome: 27.7% (AC=42039, hom=6670)56 overlapping SVs

8 papers

chr1:15506000 T>G

NM_001229.5

p.H237P

c.710A>C

Peptidase_C14

Exome: 0.2% (AC=2736, hom=0)Genome: 0.1% (AC=207, hom=0)54 overlapping SVs

5 papers

chr1:15518115 T>C

NM_001229.5

p.D138G

c.413A>G

Exome: 0.0% (AC=1, hom=0)Genome: n/a55 overlapping SVs

4 papers

chr1:15507012 G>A

NM_001229.5

p.R173C

c.517C>T

Peptidase_C14

Exome: 0.0% (AC=51, hom=0)Genome: 0.0% (AC=3, hom=0)54 overlapping SVs

4 papers

chr1:15506955 G>A

NM_001229.5

p.R192C

c.574C>T

Peptidase_C14

Exome: 0.0% (AC=220, hom=0)Genome: 0.1% (AC=178, hom=0)54 overlapping SVs

4 papers

chr1:15495396 C>CA

NM_001229.5

p.P308insFs

c.924dupT

Peptidase_C14

Exome: 0.0% (AC=77, hom=0)Genome: 0.0% (AC=6, hom=0)54 overlapping SVs

4 papers

chr1:15493953 G>T

NM_001229.5

p.T366N

c.1097C>A

Peptidase_C14

Exome: 0.1% (AC=1716, hom=29)Genome: 0.9% (AC=1312, hom=19)55 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."