Varaico: Literature-Extracted Genetic Variants

Gene:CASP14
Variant:p.R5R

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
1 paper
NM_012114.3
p.R5R
c.13C>A
Surrounding Variants
1 paper
NM_012114.3
p.R5G
c.13C>G
1 paper
NM_012114.3
p.R18L
c.53G>T
1 paper
NM_012114.3
p.S32Y
c.95C>A
2 papers
NM_012114.3
p.E33K
c.97G>A
1 paper
NM_012114.3
p.D35V
c.104A>T
1 paper
NM_012114.3
p.D37G
c.110A>G
1 paper
NM_012114.3
p.A38P
c.112G>C
1 paper
NM_012114.3
p.E49K
c.145G>A
1 paper
NM_012114.3
p.R54K
c.161G>A
2 papers
NM_012114.3
p.A58A
c.174C>T
1 paper
NM_012114.3
p.E63G
c.188A>G
1 paper
NM_012114.3
p.Q70K
c.208C>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."