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

Selected Variant

1 paper

NM_005632.3

p.G76V

c.227G>T

Surrounding Variants

3 papers

NM_005632.3

p.A74V

c.221C>T

1 paper

NM_005632.3

p.P73del1

c.217_218delCCT

1 paper

NM_005632.3

p.E72_P73del1

c.216_218delGCC

1 paper

NM_005632.3

p.A63T

c.187G>A

1 paper

NM_005632.3

p.V43_E45del0

c.129_134del6

1 paper

NM_005632.3

p.A111E

c.332C>A

1 paper

NM_005632.3

p.A28V

c.83C>T

1 paper

NM_005632.3

p.E129_Q134del6

c.385_401del18

1 paper

NM_005632.3

p.E130K

c.388G>A

1 paper

NM_005632.3

p.K131Q

c.391A>C

1 paper

NM_005632.3

p.K131E

c.391A>G

1 paper

NM_005632.3

p.A18A

c.54C>G