Varaico: Literature-Extracted Genetic Variants

CAPN9

104 papers

RefSeq Summary

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

Pfam Domains

Peptidase_C2aa 71–272UCSCCalpain family cysteine protease

Calpain_IIIaa 291–423UCSCCalpain large subunit, domain III

EF-hand_8aa 470–530UCSCEF-hand domain pair

Gene Aliases

HGNC Name

calpain 9

HGNC Alias Symbols

nCL-4; GC36

Papers

RefSeq ID

Protein change

DNA change

1–12 of 114 variants

4 papers

NM_006615.3

p.R277W

c.829C>T

3 papers

NM_006615.3

p.G95Splc

c.284-1G>C

3 papers

NM_006615.3

p.A239T

c.715G>A

2 papers

NM_006615.3

p.A19T

c.55G>A

2 papers

NM_006615.3

p.A102V

c.305C>T

2 papers

NM_006615.3

p.S122R

c.364A>C

2 papers

NM_006615.3

p.S122R

c.366C>A

2 papers

NM_006615.3

p.S122R

c.366C>G

2 papers

NM_006615.3

p.R156S

c.466C>A

2 papers

NM_006615.3

p.R156C

c.466C>T

2 papers

NM_006615.3

p.N166S

c.497A>G

2 papers

NM_006615.3

p.A345T

c.1033G>A