Varaico: Literature-Extracted Genetic Variants

Gene:CAPN5
Variant:p.D382N

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.D382N
c.1144G>A
Surrounding Variants
1 paper
NM_004055.5
p.F384V
c.1150T>G
1 paper
NM_004055.5
p.Q386*
c.1156C>T
1 paper
NM_004055.5
p.G376V
c.1127G>T
10 papers
NM_004055.5
p.G376S
c.1126G>A
1 paper
NM_004055.5
p.R370*
c.1108C>T
1 paper
NM_004055.5
p.D368N
c.1102G>A
1 paper
NM_004055.5
p.E367Q
c.1099G>C
1 paper
NM_004055.5
p.T364T
c.1092G>A
1 paper
NM_004055.5
p.L359V
c.1075C>G
1 paper
NM_004055.5
p.E355K
c.1063G>A
2 papers
NM_004055.5
p.V342M
c.1024G>A
1 paper
NM_004055.5
p.R341H
c.1022G>A
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