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.T521S

c.1561A>T

Surrounding Variants

1 paper

NM_005186.4

p.T521S

c.1562C>G

1 paper

NM_005186.4

p.K517fs

c.1549_1550fs

2 papers

NM_005186.4

p.S515_K517delFs

c.1545_1549del5

1 paper

NM_005186.4

p.R512H

c.1535G>A

11 papers

NM_005186.4

p.R512C

c.1534C>T

5 papers

NM_005186.4

p.P498L

c.1493C>T

1 paper

NM_005186.4

p.P498T

c.1492C>A

1 paper

NM_005186.4

p.V495L

c.1483G>C

1 paper

NM_005186.4

p.V495L

c.1483G>T

1 paper

NM_005186.4

p.E493K

c.1477G>A

3 papers

NM_005186.4

p.G492R

c.1474G>A

3 papers

NM_005186.4

p.G492R

c.1474G>C