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

2 papers

NM_006615.3

p.N166S

c.497A>G

Surrounding Variants

1 paper

NM_006615.3

p.N166N

c.498C>T

1 paper

NM_006615.3

p.D164N

c.490G>A

1 paper

NM_006615.3

p.D164H

c.490G>C

2 papers

NM_006615.3

p.R156S

c.466C>A

2 papers

NM_006615.3

p.R156C

c.466C>T

1 paper

NM_006615.3

p.T152fs

c.454_455fs

1 paper

NM_006615.3

p.P151delFs

c.453delC

1 paper

NM_006615.3

p.V145G

c.434T>G

1 paper

NM_006615.3

p.V144M

c.430G>A

1 paper

NM_006615.3

p.Q134_F135Splc

c.403-2A>G

1 paper

NM_006615.3

p.H132Y

c.394C>T

2 papers

NM_006615.3

p.S122R

c.366C>A