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.T259P

c.775A>C

Surrounding Variants

1 paper

NM_006615.3

p.T259M

c.776C>T

1 paper

NM_006615.3

p.I251T

c.752T>C

1 paper

NM_006615.3

p.G249insFs

c.745_746ins4

1 paper

NM_006615.3

p.P247L

c.740C>T

1 paper

NM_006615.3

p.A239V

c.716C>T

3 papers

NM_006615.3

p.A239T

c.715G>A

1 paper

NM_006615.3

p.R237G

c.709A>G

1 paper

NM_006615.3

p.D235G

c.704A>G

1 paper

NM_006615.3

p.S228Y

c.683C>A

1 paper

NM_006615.3

p.K222Q

c.664A>C

1 paper

NM_006615.3

p.P213P

c.639C>G

1 paper

NM_006615.3

p.A204T

c.610G>A