Varaico: Literature-Extracted Genetic Variants

Gene:CAPN10
Variant:p.P227P

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.P227P
c.681C>G
Surrounding Variants
1 paper
NM_023083.4
p.E204Q
c.610G>C
1 paper
NM_023083.4
p.W203C
c.609G>T
1 paper
NM_023083.4
p.R202H
c.605G>A
2 papers
NM_023083.4
p.R202G
c.604C>G
1 paper
NM_023083.4
p.P200P
c.600A>G
3 papers
NM_023083.4
p.P200T
c.598C>A
2 papers
NM_023083.4
p.R199R
c.597G>A
1 paper
NM_023083.4
p.A191V
c.572C>T
1 paper
NM_023083.4
p.V190I
c.568G>A
1 paper
NM_023083.4
p.L187Q
c.560T>A
1 paper
NM_023083.4
p.G179S
c.535G>A
1 paper
NM_023083.4
p.T178A
c.532A>G
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