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

7 papers

NM_005186.4

p.A381V

c.1142C>T

Surrounding Variants

2 papers

NM_005186.4

p.G383D

c.1148G>A

2 papers

NM_005186.4

p.R385*

c.1153C>T

1 paper

NM_005186.4

p.R385R

c.1155A>G

1 paper

NM_005186.4

p.R377W

c.1129C>T

2 papers

NM_005186.4

p.R377fs

c.1129_1130fs

1 paper

NM_005186.4

p.R376W

c.1126C>T

4 papers

NM_005186.4

p.R377_G378delFs

c.1129_1133del5

3 papers

NM_005186.4

p.A389Splc

c.1165+1G>A

2 papers

NM_005186.4

p.R364H

c.1091G>A

1 paper

NM_005186.4

p.R361W

c.1081C>T

1 paper

NM_005186.4

p.C351R

c.1051T>C

7 papers

NM_005186.4

p.R339*

c.1015C>T