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.G200C

c.598G>T

Surrounding Variants

1 paper

NM_005186.4

p.G200_A204del0

c.598_612del15

1 paper

NM_005186.4

p.E203K

c.607G>A

5 papers

NM_005186.4

p.L205R

c.614T>G

1 paper

NM_005186.4

p.L205delFs

c.615delG

10 papers

NM_005186.4

p.S206_G207delFs

c.618_619delAG

1 paper

NM_005186.4

p.G208R

c.622G>C

6 papers

NM_005186.4

p.G208fs

c.622_623fs

3 papers

NM_005186.4

p.G208D

c.623G>A

1 paper

NM_005186.4

p.S209R

c.627C>G

2 papers

NM_005186.4

p.E212K

c.634G>A

1 paper

NM_005186.4

p.G213A

c.638G>C

1 paper

NM_005186.4

p.G219G

c.657C>T