Varaico: Literature-Extracted Genetic Variants

SENP3

161 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 numerous biologic processes. SUMO-specific prote...

Pfam Domains

SENP3_5_Naa 287–389UCSCSentrin-specific protease 3/5 N-terminal

Peptidase_C48aa 400–572UCSCUlp1 protease family, C-terminal catalytic domain

Gene Aliases

HGNC Name

SUMO specific peptidase 3

HGNC Alias Symbols

DKFZP586K0919; SSP3; DKFZp762A152; SMT3IP1; Ulp1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 62 variants

7 papers

NM_015670.6

p.C532S

c.1594T>A

7 papers

NM_015670.6

p.C532S

c.1595G>C

5 papers

NM_015670.6

p.K436fs

c.1306_1307fs

3 papers

NM_015670.6

p.Q178K

c.532C>A

3 papers

NM_015670.6

p.K436delFs

c.1306delA

2 papers

NM_015670.6

p.T4T

c.12T>A

2 papers

NM_015670.6

p.V58M

c.172G>A

2 papers

NM_015670.6

p.F429S

c.1286T>C

1 paper

NM_015670.6

p.E3A

c.8A>C

1 paper

NM_015670.6

p.P15R

c.44C>G

1 paper

NM_015670.6

p.P16S

c.46C>T

1 paper

NM_015670.6

p.S26G

c.76A>G