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.P921P

c.2763G>A

Surrounding Variants

2 papers

NM_005632.3

p.P927L

c.2780C>T

2 papers

NM_005632.3

p.A913fs

c.2737_2738fs

1 paper

NM_005632.3

p.P904P

c.2712C>T

1 paper

NM_005632.3

p.R963H

c.2888G>A

1 paper

NM_005632.3

p.E968K

c.2902G>A

1 paper

NM_005632.3

p.A892T

c.2674G>A

1 paper

NM_005632.3

p.E890del1

c.2668_2669delGAG

1 paper

NM_005632.3

p.L886_E887del1

c.2658_2660delGGA

1 paper

NM_005632.3

p.K873T

c.2618A>C

2 papers

NM_005632.3

p.G969S

c.2905G>A

2 papers

NM_005632.3

p.L865P

c.2594T>C

1 paper

NM_005632.3

p.G981S

c.2941G>A