Varaico: Literature-Extracted Genetic Variants

Gene:CASP9
Variant:p.L384L

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
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001229.5
p.L384L
c.1152G>C
Surrounding Variants
1 paper
NM_001229.5
p.D379Y
c.1135G>T
1 paper
NM_001229.5
p.A375S
c.1123G>T
1 paper
NM_001229.5
p.F371L
c.1113T>G
1 paper
NM_001229.5
p.F371L
c.1113T>A
1 paper
NM_001229.5
p.F371C
c.1112T>G
1 paper
NM_001229.5
p.F371L
c.1111T>C
1 paper
NM_001229.5
p.L367L
c.1101G>A
4 papers
NM_001229.5
p.T366N
c.1097C>A
1 paper
NM_001229.5
p.V364I
c.1090G>A
1 paper
NM_001229.5
p.G360S
c.1078G>A
1 paper
NM_001229.5
p.D356N
c.1066G>A
1 paper
NM_001229.5
p.R355M
c.1064G>T
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