Varaico: Literature-Extracted Genetic Variants

Gene:CAPN10
Variant:p.L336V

CAPN10

177 papers

RefSeq Summary

Calpains represent a ubiquitous, well-conserved family of calcium-dependent cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subuni...

Pfam Domains

Peptidase_C2aa 14–319UCSCCalpain family cysteine protease
Calpain_IIIaa 342–486UCSCCalpain large subunit, domain III
Calpain_IIIaa 342–486UCSCCalpain large subunit, domain III
Calpain_IIIaa 519–643UCSCCalpain large subunit, domain III

Gene Aliases

HGNC Name

calpain 10

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_023083.4
p.L336V
c.1006C>G
Surrounding Variants
1 paper
NM_023083.4
p.A341V
c.1022C>T
1 paper
NM_023083.4
p.W346S
c.1037G>C
1 paper
NM_023083.4
p.G349S
c.1045G>A
1 paper
NM_023083.4
p.G349A
c.1046G>C
1 paper
NM_023083.4
p.A352V
c.1055C>T
1 paper
NM_023083.4
p.R356W
c.1066C>T
1 paper
NM_023083.4
p.F367L
c.1101C>A
1 paper
NM_023083.4
p.V371I
c.1111G>A
3 papers
NM_023083.4
p.P374L
c.1121C>T
1 paper
NM_023083.4
p.I379V
c.1135A>G
2 papers
NM_023083.4
p.V381I
c.1141G>A
1 paper
NM_023083.4
p.L382R
c.1145T>G
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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."