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.P111H

c.332C>A

Surrounding Variants

1 paper

NM_014289.4

p.Q112P

c.335A>C

1 paper

NM_014289.4

p.D110N

c.328G>A

1 paper

NM_014289.4

p.P102P

c.306C>G

1 paper

NM_014289.4

p.I120I

c.360A>T

1 paper

NM_014289.4

p.R124C

c.370C>T

1 paper

NM_014289.4

p.W159C

c.477G>T

1 paper

NM_014289.4

p.W159C

c.477G>C

1 paper

NM_014289.4

p.C173delFs

c.517delA

1 paper

NM_014289.4

p.E175G

c.524A>G

1 paper

NM_014289.4

p.I185V

c.553A>G

1 paper

NM_014289.4

p.K99_T100Splc

c.297+1G>T

1 paper

NM_014289.4

p.N70K

c.210C>G