Varaico: Literature-Extracted Genetic Variants

CAPN1

222 papers

RefSeq Summary

The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ub...

Pfam Domains

Peptidase_C2aa 56–352UCSCCalpain family cysteine protease

Calpain_IIIaa 371–514UCSCCalpain large subunit, domain III

EF-hand_8aa 557–617UCSCEF-hand domain pair

Gene Aliases

HGNC Name

calpain 1

HGNC Alias Symbols

muCANP; CANP; CANPL1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005186.4

p.R473H

c.1418G>A

Surrounding Variants

9 papers

NM_005186.4

p.R473L

c.1418G>T

1 paper

NM_005186.4

p.R473R

c.1419C>G

1 paper

NM_005186.4

p.R473fs

c.1417_1418fs

2 papers

NM_005186.4

p.R473delFs

c.1418_1419delGC

1 paper

NM_005186.4

p.A469V

c.1406C>T

1 paper

NM_005186.4

p.R481*

c.1441C>T

6 papers

NM_005186.4

p.R481Q

c.1442G>A

1 paper

NM_005186.4

p.R462H

c.1385G>A

4 papers

NM_005186.4

p.R486C

c.1456C>T

1 paper

NM_005186.4

p.R486_F487insFs

c.1458_1459ins10

1 paper

NM_005186.4

p.R488H

c.1463G>A

1 paper

NM_005186.4

p.V458L

c.1372G>C