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.P378L

c.1133C>T

Surrounding Variants

5 papers

NM_001145122.2

p.F374L

c.1122T>G

5 papers

NM_001145122.2

p.F374L

c.1122T>A

5 papers

NM_001145122.2

p.F374L

c.1120T>C

1 paper

NM_001145122.2

p.D372V

c.1115A>T

1 paper

NM_001145122.2

p.E388K

c.1162G>A

1 paper

NM_001145122.2

p.E388A

c.1163A>C

1 paper

NM_001145122.2

p.R392K

c.1175G>A

1 paper

NM_001145122.2

p.S398S

c.1194C>T

1 paper

NM_001145122.2

p.L400L

c.1200G>A

1 paper

NM_001145122.2

p.L404L

c.1212C>T

1 paper

NM_001145122.2

p.R410G

c.1228A>G

1 paper

NM_001145122.2

p.R412H

c.1235G>A