Varaico: Literature-Extracted Genetic Variants

Gene:CAPN5
Variant:p.C81S

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
4 papers
NM_004055.5
p.C81S
c.241T>A
Surrounding Variants
4 papers
NM_004055.5
p.C81S
c.242G>C
1 paper
NM_004055.5
p.G79R
c.235G>C
3 papers
NM_004055.5
p.Q77R
c.230A>G
1 paper
NM_004055.5
p.C87Y
c.260G>A
1 paper
NM_004055.5
p.S88L
c.263C>T
2 papers
NM_004055.5
p.L73V
c.217C>G
4 papers
NM_004055.5
p.D72N
c.214G>A
1 paper
NM_004055.5
p.H71Y
c.211C>T
1 paper
NM_004055.5
p.D60A
c.179A>C
1 paper
NM_004055.5
p.C58Y
c.173G>A
1 paper
NM_004055.5
p.K55_G56Splc
c.165+3011G>T
3 papers
NM_004055.5
p.R53*
c.157C>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."