Varaico: Literature-Extracted Genetic Variants

CAPN15

82 papers

RefSeq Summary

This gene encodes a protein containing zinc-finger-like repeats and a calpain-like protease domain. The encoded protein may function as a transcription factor, RNA-binding protein, or in protein-prote...

Pfam Domains

Zn_ribbon_RanBPaa 4–32UCSCZn-finger in Ran binding protein and others

Zn_ribbon_RanBPaa 143–172UCSCZn-finger in Ran binding protein and others

Zn_ribbon_RanBPaa 342–368UCSCZn-finger in Ran binding protein and others

Zn_ribbon_RanBPaa 412–441UCSCZn-finger in Ran binding protein and others

Peptidase_C2aa 488–791UCSCCalpain family cysteine protease

CalpD_Caa 959–1057UCSCCalpain-D-like, C-terminal domain

Gene Aliases

HGNC Name

calpain 15

HGNC Previous Symbol

SOLH

Papers

RefSeq ID

Protein change

DNA change

1–12 of 104 variants

5 papers

NM_005632.3

p.S613L

c.1838C>T

3 papers

NM_005632.3

p.A74V

c.221C>T

3 papers

NM_005632.3

p.R800W

c.2398C>T

3 papers

NM_005632.3

p.R1028K

c.3083G>A

2 papers

NM_005632.3

p.S658N

c.1973G>A

2 papers

NM_005632.3

p.S720F

c.2159C>T

2 papers

NM_005632.3

p.G778S

c.2332G>A

2 papers

NM_005632.3

p.L865P

c.2594T>C

2 papers

NM_005632.3

p.A913fs

c.2737_2738fs

2 papers

NM_005632.3

p.P927L

c.2780C>T

2 papers

NM_005632.3

p.G969S

c.2905G>A

1 paper

NM_005632.3

p.A18A

c.54C>G