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.S684Y

c.2051C>A

Surrounding Variants

1 paper

NM_001145122.2

p.E676_W677Splc

c.2029-78C>T

1 paper

NM_001145122.2

p.E676_W677Splc

c.2028+58G>A

1 paper

NM_001145122.2

p.Q673*

c.2017C>T

1 paper

NM_001145122.2

p.D666N

c.1996G>A

1 paper

NM_001145122.2

p.D658Splc

c.1973-143G>A

1 paper

NM_001145122.2

p.L649W

c.1946T>G

1 paper

NM_001145122.2

p.G636S

c.1906G>A

3 papers

NM_001145122.2

p.V626I

c.1876G>A

1 paper

NM_001145122.2

p.S623G

c.1867A>G

1 paper

NM_001145122.2

p.R616G

c.1846A>G

1 paper

NM_001145122.2

p.R601G

c.1801C>G

1 paper

NM_001145122.2

p.I565I

c.1695C>T