Varaico: Literature-Extracted Genetic Variants

Gene:CAPN5
Variant:p.R263H

CAPN5

135 papers

RefSeq Summary

Calpains are calcium-dependent cysteine proteases involved in signal transduction in a variety of cellular processes. A functional calpain protein consists of an invariant small subunit and 1 of a fam...

Pfam Domains

Peptidase_C2aa 27–341UCSCCalpain family cysteine protease
Calpain_IIIaa 359–488UCSCCalpain large subunit, domain III
C2aa 518–612UCSCC2 domain

Gene Aliases

HGNC Name

calpain 5

HGNC Previous Symbol

VRNI

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004055.5
p.R263H
c.788G>A
Surrounding Variants
13 papers
NM_004055.5
p.G267S
c.799G>A
1 paper
NM_004055.5
p.L268L
c.804A>G
1 paper
NM_004055.5
p.L269P
c.806T>C
1 paper
NM_004055.5
p.Y254*
c.762C>A
1 paper
NM_004055.5
p.Y254*
c.762C>G
13 papers
NM_004055.5
p.K250N
c.750G>C
13 papers
NM_004055.5
p.K250N
c.750G>T
1 paper
NM_004055.5
p.R281delFs
c.841delC
18 papers
NM_004055.5
p.L244P
c.731T>C
1 paper
NM_004055.5
p.R243H
c.728G>A
27 papers
NM_004055.5
p.R243L
c.728G>T
1 paper
NM_004055.5
p.R243S
c.727C>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."