Varaico: Literature-Extracted Genetic Variants

Gene:CAPN5
Variant:p.R21L

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.R21L
c.62G>T
Surrounding Variants
1 paper
NM_004055.5
p.R21W
c.61C>T
1 paper
NM_004055.5
p.R22C
c.64C>T
1 paper
NM_004055.5
p.D19V
c.56A>T
4 papers
NM_004055.5
p.F27L
c.81C>A
1 paper
NM_004055.5
p.E28K
c.82G>A
1 paper
NM_004055.5
p.L31delFs
c.91delC
1 paper
NM_004055.5
p.F32S
c.95T>C
1 paper
NM_004055.5
p.P33S
c.97C>T
2 papers
NM_004055.5
p.D37N
c.109G>A
1 paper
NM_004055.5
p.L39I
c.115C>A
1 paper
NM_004055.5
p.M1T
c.2T>C
1 paper
NM_004055.5
p.T44_P47insFs
c.130_139dup10
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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."