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.A334V

c.1001C>T

Surrounding Variants

1 paper

NM_005632.3

p.V356A

c.1067T>C

1 paper

NM_005632.3

p.R309H

c.926G>A

1 paper

NM_005632.3

p.R309L

c.926G>T

1 paper

NM_005632.3

p.C363R

c.1087T>C

1 paper

NM_005632.3

p.E301G

c.902A>G

1 paper

NM_005632.3

p.G370S

c.1108G>A

1 paper

NM_005632.3

p.R407H

c.1220G>A

1 paper

NM_005632.3

p.E261K

c.781G>A

1 paper

NM_005632.3

p.V259V

c.777G>A

1 paper

NM_005632.3

p.Q254fs

c.760_761fs

1 paper

NM_005632.3

p.P252insFs

c.754dupC

1 paper

NM_005632.3

p.R248*

c.742C>T