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

11 papers

NM_005186.4

p.W392*

c.1175G>A

Surrounding Variants

14 papers

NM_005186.4

p.W392*

c.1176G>A

1 paper

NM_005186.4

p.T390N

c.1169C>A

1 paper

NM_005186.4

p.F397L

c.1189T>C

1 paper

NM_005186.4

p.F397L

c.1191C>A

1 paper

NM_005186.4

p.F397L

c.1191C>G

1 paper

NM_005186.4

p.K398R

c.1193A>G

1 paper

NM_005186.4

p.A389Splc

c.1166-9T>G

1 paper

NM_005186.4

p.R400Q

c.1199G>A

4 papers

NM_005186.4

p.M424R

c.1271T>G

1 paper

NM_005186.4

p.R428L

c.1283G>T

2 papers

NM_005186.4

p.R430H

c.1289G>A

1 paper

NM_005186.4

p.R432H

c.1295G>A