Varaico: Literature-Extracted Genetic Variants

Gene:CASP14
Variant:p.D154_S155delFs

CASP14

54 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

Peptidase_C14aa 17–240UCSCCaspase domain

Gene Aliases

HGNC Name

caspase 14

HGNC Alias Symbols

MGC119078; MGC119079; caspase-14

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_012114.3
p.D154_S155delFs
c.462_463delCA
Surrounding Variants
1 paper
NM_012114.3
p.D154fs
c.460_461fs
1 paper
NM_012114.3
p.D154fs
c.460_461fs
1 paper
NM_012114.3
p.G140S
c.418G>A
1 paper
NM_012114.3
p.P139L
c.416C>T
1 paper
NM_012114.3
p.G174Splc
c.520+1G>T
1 paper
NM_012114.3
p.A177T
c.529G>A
2 papers
NM_012114.3
p.R179*
c.535C>T
1 paper
NM_012114.3
p.T196M
c.587C>T
1 paper
NM_012114.3
p.K197*
c.589A>T
1 paper
NM_012114.3
p.E204*
c.610G>T
1 paper
NM_012114.3
p.E208_V209Splc
c.625-34G>T
1 paper
NM_012114.3
p.A216E
c.647C>A
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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."