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.L65P

c.194T>C

Surrounding Variants

1 paper

NM_001145122.2

p.I56delFs

c.167delA

1 paper

NM_001145122.2

p.P75L

c.224C>T

1 paper

NM_001145122.2

p.E36D

c.108G>T

1 paper

NM_001145122.2

p.E36D

c.108G>C

1 paper

NM_001145122.2

p.A35P

c.103G>C

1 paper

NM_001145122.2

p.E31K

c.91G>A

1 paper

NM_001145122.2

p.P26S

c.76C>T

1 paper

NM_001145122.2

p.A14V

c.41C>T

1 paper

NM_001145122.2

p.W4C

c.12G>C

1 paper

NM_001145122.2

p.W4*

c.12G>A

1 paper

NM_001145122.2

p.F83L

c.247T>C

1 paper

NM_001145122.2

p.D92Y

c.274G>T