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.F83L

c.247T>C

Surrounding Variants

1 paper

NM_001145122.2

p.D92Y

c.274G>T

1 paper

NM_001145122.2

p.G99Splc

c.296-100G>A

1 paper

NM_001145122.2

p.G99Splc

c.296-3T>G

1 paper

NM_001145122.2

p.L104V

c.310T>G

1 paper

NM_001145122.2

p.S118G

c.352A>G

1 paper

NM_001145122.2

p.R119L

c.356G>T

1 paper

NM_001145122.2

p.V120I

c.358G>A

1 paper

NM_001145122.2

p.S126delFs

c.376_377delCT

1 paper

NM_001145122.2

p.R153C

c.457C>T

1 paper

NM_001145122.2

p.P155S

c.463C>T

1 paper

NM_001145122.2

p.S167delFs

c.499_500delGA

1 paper

NM_001145122.2

p.S167del1

c.499_500delGGA