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

1–12 of 97 variants

5 papers

NM_001145122.2

p.F374L

c.1120T>C

5 papers

NM_001145122.2

p.F374L

c.1122T>G

5 papers

NM_001145122.2

p.F374L

c.1122T>A

3 papers

NM_001145122.2

p.V283M

c.847G>A

3 papers

NM_001145122.2

p.L417F

c.1249C>T

3 papers

NM_001145122.2

p.V626I

c.1876G>A

2 papers

NM_001145122.2

p.S198P

c.592T>C

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.A14V

c.41C>T

1 paper

NM_001145122.2

p.P26S

c.76C>T

1 paper

NM_001145122.2

p.E31K

c.91G>A