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.R836Splc

c.2508-31G>C

Surrounding Variants

1 paper

NM_005632.3

p.R837C

c.2509C>T

1 paper

NM_005632.3

p.A840delFs

c.2520delC

1 paper

NM_005632.3

p.V841L

c.2521G>C

1 paper

NM_005632.3

p.V841L

c.2521G>T

1 paper

NM_005632.3

p.V841fs

c.2521_2522fs

1 paper

NM_005632.3

p.R854W

c.2560C>T

2 papers

NM_005632.3

p.L865P

c.2594T>C

1 paper

NM_005632.3

p.A811V

c.2432C>T

1 paper

NM_005632.3

p.K873T

c.2618A>C

3 papers

NM_005632.3

p.R800W

c.2398C>T

1 paper

NM_005632.3

p.L886_E887del1

c.2658_2660delGGA

1 paper

NM_005632.3

p.E890del1

c.2668_2669delGAG