Varaico: Literature-Extracted Genetic Variants

SENP7

67 papers

RefSeq Summary

The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for many cellular processes. SUMO-specific proteases...

Pfam Domains

Peptidase_C48aa 709–972UCSCUlp1 protease family, C-terminal catalytic domain

Gene Aliases

HGNC Name

SUMO specific peptidase 7

HGNC Previous Names

SUMO1/sentrin specific protease 7; SUMO1/sentrin specific peptidase 7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_020654.5

p.K79Q

c.235A>C

Surrounding Variants

1 paper

NM_020654.5

p.N78_K79insFs

c.234_235insA

NM_001282803.2

p.N45_K46insFs

c.135_136insA

1 paper

NM_020654.5

p.K80insFs

c.240dupA

1 paper

NM_020654.5

p.P86L

c.257C>T