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.T337P

c.1009A>C

Surrounding Variants

1 paper

NM_006615.3

p.A340V

c.1019C>T

1 paper

NM_006615.3

p.D329V

c.986A>T

1 paper

NM_006615.3

p.D344E

c.1032C>A

2 papers

NM_006615.3

p.A345T

c.1033G>A

1 paper

NM_006615.3

p.D329N

c.985G>A

1 paper

NM_006615.3

p.W358C

c.1074G>C

1 paper

NM_006615.3

p.W358C

c.1074G>T

1 paper

NM_006615.3

p.R360C

c.1078C>T

1 paper

NM_006615.3

p.G366D

c.1097G>A

1 paper

NM_006615.3

p.T385P

c.1153A>C

1 paper

NM_006615.3

p.T385I

c.1154C>T

1 paper

NM_006615.3

p.D388G

c.1163A>G