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

Selected Variant

1 paper

NM_015670.6

p.V574A

c.1721T>C

Surrounding Variants

1 paper

NM_015670.6

p.K565R

c.1694A>G

1 paper

NM_015670.6

p.L537S

c.1610T>C

7 papers

NM_015670.6

p.C532S

c.1595G>C

7 papers

NM_015670.6

p.C532S

c.1594T>A

1 paper

NM_015670.6

p.A503V

c.1508C>T

1 paper

NM_015670.6

p.E454Q

c.1360G>C

1 paper

NM_015670.6

p.N447_V448Splc

c.1342-790G>A

1 paper

NM_015670.6

p.K436R

c.1307A>G

5 papers

NM_015670.6

p.K436fs

c.1306_1307fs

3 papers

NM_015670.6

p.K436delFs

c.1306delA

2 papers

NM_015670.6

p.F429S

c.1286T>C

1 paper

NM_015670.6

p.N426S

c.1277A>G