Varaico: Literature-Extracted Genetic Variants

CAPN6

65 papers

RefSeq Summary

Calpains are ubiquitous, well-conserved family of calcium-dependent, cysteine proteases. The calpain proteins are heterodimers consisting of an invariant small subunit and variable large subunits. The...

Pfam Domains

Peptidase_C2aa 27–341UCSCCalpain family cysteine protease

Calpain_IIIaa 356–487UCSCCalpain large subunit, domain III

C2aa 517–613UCSCC2 domain

Gene Aliases

HGNC Name

calpain 6

HGNC Alias Symbols

CAPNX; CalpM; CANPX

Papers

RefSeq ID

Protein change

DNA change

1–12 of 62 variants

2 papers

NM_014289.4

p.T253S

c.757A>T

2 papers

NM_014289.4

p.T253S

c.758C>G

2 papers

NM_014289.4

p.G358R

c.1072G>C

2 papers

NM_014289.4

p.G358R

c.1072G>A

2 papers

NM_014289.4

p.R408C

c.1222C>T

2 papers

NM_014289.4

p.R454H

c.1361G>A

1 paper

NM_014289.4

p.N10fs

c.28_29fs

1 paper

NM_014289.4

p.N10delFs

c.29delT

1 paper

NM_014289.4

p.F27L

c.81C>A

1 paper

NM_014289.4

p.P34L

c.101C>T

1 paper

NM_014289.4

p.V50A

c.149T>C

1 paper

NM_014289.4

p.R53L

c.158G>T