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

Selected Variant

2 papers

NM_014289.4

p.T253S

c.758C>G

Surrounding Variants

2 papers

NM_014289.4

p.T253S

c.757A>T

1 paper

NM_014289.4

p.K250N

c.750G>T

1 paper

NM_014289.4

p.K250N

c.750G>C

1 paper

NM_014289.4

p.R263C

c.787C>T

1 paper

NM_014289.4

p.G287R

c.859G>C

1 paper

NM_014289.4

p.G287R

c.859G>A

1 paper

NM_014289.4

p.S299Y

c.896C>A

1 paper

NM_014289.4

p.R310C

c.928C>T

1 paper

NM_014289.4

p.V339F

c.1015G>T

1 paper

NM_014289.4

p.S355L

c.1064C>T

2 papers

NM_014289.4

p.G358R

c.1072G>C

2 papers

NM_014289.4

p.G358R

c.1072G>A