Varaico: Literature-Extracted Genetic Variants

Gene:CASP14
Variant:p.R225K

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.R225K
c.674G>A
Surrounding Variants
1 paper
NM_012114.3
p.A224G
c.671C>G
1 paper
NM_012114.3
p.G222V
c.665G>T
1 paper
NM_012114.3
p.E230K
c.688G>A
1 paper
NM_012114.3
p.A216E
c.647C>A
1 paper
NM_012114.3
p.T234T
c.702C>A
1 paper
NM_012114.3
p.Q242*
c.724C>T
1 paper
NM_012114.3
p.*243E
c.727T>G
1 paper
NM_012114.3
p.E208_V209Splc
c.625-34G>T
1 paper
NM_012114.3
p.E204*
c.610G>T
1 paper
NM_012114.3
p.K197*
c.589A>T
1 paper
NM_012114.3
p.T196M
c.587C>T
2 papers
NM_012114.3
p.R179*
c.535C>T
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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."