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.A19T

c.55G>A

Surrounding Variants

1 paper

NM_006615.3

p.A19S

c.55G>T

1 paper

NM_006615.3

p.R6W

c.16C>T

1 paper

NM_006615.3

p.M32I

c.96G>A

1 paper

NM_006615.3

p.M32I

c.96G>C

1 paper

NM_006615.3

p.M32I

c.96G>T

1 paper

NM_006615.3

p.G40C

c.118G>T

1 paper

NM_006615.3

p.T41A

c.121A>G

1 paper

NM_006615.3

p.D47H

c.139G>C

1 paper

NM_006615.3

p.S58fs

c.172_173fs

1 paper

NM_006615.3

p.K68T

c.203A>C

1 paper

NM_006615.3

p.K68N

c.204A>T

1 paper

NM_006615.3

p.G71_E72Splc

c.214-4C>T