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.D313G

c.938A>G

Surrounding Variants

1 paper

NM_006615.3

p.E295Q

c.883G>C

1 paper

NM_006615.3

p.S292Splc

c.875+86C>T

1 paper

NM_006615.3

p.S292N

c.875G>A

1 paper

NM_006615.3

p.S288S

c.864G>A

1 paper

NM_006615.3

p.G287R

c.859G>A

1 paper

NM_006615.3

p.G287R

c.859G>C

4 papers

NM_006615.3

p.R277W

c.829C>T

1 paper

NM_006615.3

p.R275Q

c.824G>A

1 paper

NM_006615.3

p.R275*

c.823C>T

1 paper

NM_006615.3

p.R267Q

c.800G>A

1 paper

NM_006615.3

p.D329N

c.985G>A

1 paper

NM_006615.3

p.D329V

c.986A>T