Varaico: Literature-Extracted Genetic Variants

CAPN14

77 papers

RefSeq Summary

Calpains are a family of cytosolic calcium-activated cysteine proteases involved in a variety of cellular processes including apoptosis, cell division, modulation of integrin-cytoskeletal interactions...

Pfam Domains

Peptidase_C2aa 44–334UCSCCalpain family cysteine protease

Calpain_IIIaa 353–491UCSCCalpain large subunit, domain III

Gene Aliases

HGNC Name

calpain 14

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001145122.2

p.V328M

c.982G>A

Surrounding Variants

1 paper

NM_001145122.2

p.T325A

c.973A>G

1 paper

NM_001145122.2

p.P337Q

c.1010C>A

1 paper

NM_001145122.2

p.G338V

c.1013G>T

1 paper

NM_001145122.2

p.W317G

c.949T>G

1 paper

NM_001145122.2

p.A344T

c.1030G>A

1 paper

NM_001145122.2

p.G355G

c.1065G>A

1 paper

NM_001145122.2

p.R356delFs

c.1067_1068delTC

1 paper

NM_001145122.2

p.G365S

c.1093G>A

1 paper

NM_001145122.2

p.D313D

c.939C>T

1 paper

NM_001145122.2

p.D372V

c.1115A>T

1 paper

NM_001145122.2

p.K310E

c.928A>G

5 papers

NM_001145122.2

p.F374L

c.1120T>C