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

3 papers

NM_015670.6

p.K436delFs

c.1306delA

Surrounding Variants

5 papers

NM_015670.6

p.K436fs

c.1306_1307fs

1 paper

NM_015670.6

p.K436R

c.1307A>G

2 papers

NM_015670.6

p.F429S

c.1286T>C

1 paper

NM_015670.6

p.N426S

c.1277A>G

1 paper

NM_015670.6

p.Q405_V406Splc

c.1216-19C>G

1 paper

NM_015670.6

p.K384R

c.1151A>G

1 paper

NM_015670.6

p.L334P

c.1001T>C

1 paper

NM_015670.6

p.S319Splc

c.955+35T>C

1 paper

NM_015670.6

p.A303T

c.907G>A

1 paper

NM_015670.6

p.K302R

c.905A>G

1 paper

NM_015670.6

p.D289A

c.866A>C

1 paper

NM_015670.6

p.D289Y

c.865G>T