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

1 paper

NM_014289.4

p.R454S

c.1360C>A

Surrounding Variants

2 papers

NM_014289.4

p.R454H

c.1361G>A

1 paper

NM_014289.4

p.Y461Y

c.1383C>T

1 paper

NM_014289.4

p.R444C

c.1330C>T

1 paper

NM_014289.4

p.Q475Q

c.1425G>A

1 paper

NM_014289.4

p.G422A

c.1265G>C

1 paper

NM_014289.4

p.R411H

c.1232G>A

2 papers

NM_014289.4

p.R408C

c.1222C>T

1 paper

NM_014289.4

p.L407Q

c.1220T>A

1 paper

NM_014289.4

p.L509M

c.1525C>A

1 paper

NM_014289.4

p.A510V

c.1529C>T

1 paper

NM_014289.4

p.R511H

c.1532G>A

1 paper

NM_014289.4

p.V517delFs

c.1550_1551delAA