Varaico: Literature-Extracted Genetic Variants

Gene:CAPN11
Variant:p.L142P

CAPN11

48 papers

RefSeq Summary

Calpains constitute a family of intracellular calcium-dependent cysteine proteases. There are eight members in this superfamily. They consist of a variable 80 kDa subunit and an invariant 30 kDa subun...

Pfam Domains

Peptidase_C2aa 80–376UCSCCalpain family cysteine protease
Calpain_IIIaa 395–539UCSCCalpain large subunit, domain III

Gene Aliases

HGNC Name

calpain 11

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_007058.4
p.L142P
c.425T>C
Surrounding Variants
1 paper
NM_007058.4
p.I145fs
c.433_434fs
1 paper
NM_007058.4
p.D138Y
c.412G>T
1 paper
NM_007058.4
p.N196K
c.588T>A
1 paper
NM_007058.4
p.N196K
c.588T>G
1 paper
NM_007058.4
p.V200L
c.598G>C
1 paper
NM_007058.4
p.V200L
c.598G>T
1 paper
NM_007058.4
p.A213delFs
c.637delG
1 paper
NM_007058.4
p.A213fs
c.637_638fs
1 paper
NM_007058.4
p.G237S
c.709G>A
1 paper
NM_007058.4
p.Q133*
c.397C>T
3 papers
NM_007058.4
p.R111W
c.331C>T
1 paper
NM_007058.4
p.S91L
c.272C>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."