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

Selected Variant

1 paper

NM_006615.3

p.R115S

c.345A>T

Surrounding Variants

1 paper

NM_006615.3

p.Q119*

c.355C>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

1 paper

NM_006615.3

p.L108R

c.323T>G

1 paper

NM_006615.3

p.T107M

c.320C>T

1 paper

NM_006615.3

p.S105C

c.314C>G

1 paper

NM_006615.3

p.A104delFs

c.310delG

1 paper

NM_006615.3

p.A102A

c.306C>G

2 papers

NM_006615.3

p.A102V

c.305C>T

1 paper

NM_006615.3

p.H132Y

c.394C>T

3 papers

NM_006615.3

p.G95Splc

c.284-1G>C