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.E190D

c.570A>C

Surrounding Variants

1 paper

NM_001145122.2

p.E190D

c.570A>T

1 paper

NM_001145122.2

p.K184T

c.551A>C

2 papers

NM_001145122.2

p.S198P

c.592T>C

1 paper

NM_001145122.2

p.A228A

c.684C>T

1 paper

NM_001145122.2

p.H254fs

c.760_761fs

1 paper

NM_001145122.2

p.H254delFs

c.761delT

1 paper

NM_001145122.2

p.I261M

c.783C>G

1 paper

NM_001145122.2

p.G175fs

c.523_524fs

1 paper

NM_001145122.2

p.S167del1

c.499_500delGGA

1 paper

NM_001145122.2

p.S167delFs

c.499_500delGA

1 paper

NM_001145122.2

p.P155S

c.463C>T

1 paper

NM_001145122.2

p.R153C

c.457C>T