Varaico: Literature-Extracted Genetic Variants

CAPN7

70 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

MITaa 7–69UCSCMIT (microtubule interacting and transport) domain

MITaa 87–152UCSCMIT (microtubule interacting and transport) domain

Peptidase_C2aa 245–537UCSCCalpain family cysteine protease

Calpain_IIIaa 692–801UCSCCalpain large subunit, domain III

Gene Aliases

HGNC Name

calpain 7

HGNC Alias Symbol

PalBH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_014296.3

p.M1_D2insFs

c.3_4insG

Surrounding Variants

1 paper

NM_014296.3

p.M1T

c.2T>C

1 paper

NM_014296.3

p.A14T

c.40G>A

1 paper

NM_014296.3

p.R15H

c.44G>A

2 papers

NM_014296.3

p.V18D

c.53T>A

2 papers

NM_014296.3

p.S27C

c.80C>G

1 paper

NM_014296.3

p.A36A

c.108T>C