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.R410I

c.1229G>T

Surrounding Variants

1 paper

NM_006615.3

p.K409T

c.1226A>C

1 paper

NM_006615.3

p.A421V

c.1262C>T

1 paper

NM_006615.3

p.E392*

c.1174G>T

1 paper

NM_006615.3

p.D388G

c.1163A>G

1 paper

NM_006615.3

p.T385I

c.1154C>T

1 paper

NM_006615.3

p.T385P

c.1153A>C

1 paper

NM_006615.3

p.H431N

c.1291C>A

1 paper

NM_006615.3

p.T448M

c.1343C>T

1 paper

NM_006615.3

p.R458W

c.1372C>T

1 paper

NM_006615.3

p.R458Q

c.1373G>A

1 paper

NM_006615.3

p.L468M

c.1402C>A

1 paper

NM_006615.3

p.D480A

c.1439A>C