Varaico: Literature-Extracted Genetic Variants

SENP5

62 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 1–570UCSCSentrin-specific protease 3/5 N-terminal

Peptidase_C48aa 581–753UCSCUlp1 protease family, C-terminal catalytic domain

Gene Aliases

HGNC Name

SUMO specific peptidase 5

HGNC Alias Symbol

MGC27076

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_152699.5

p.K62R

c.185A>G

Surrounding Variants

1 paper

NM_152699.5

p.Q67P

c.200A>C

1 paper

NM_152699.5

p.T69M

c.206C>T

1 paper

NM_152699.5

p.Q35R

c.104A>G

1 paper

NM_152699.5

p.S18S

c.54T>C

1 paper

NM_152699.5

p.L8I

c.22C>A

1 paper

NM_152699.5

p.K169Q

c.505A>C

1 paper

NM_152699.5

p.G172W

c.514G>T

1 paper

NM_152699.5

p.E179D

c.537G>C

1 paper

NM_152699.5

p.E179D

c.537G>T

1 paper

NM_152699.5

p.T182M

c.545C>T

1 paper

NM_152699.5

p.C199fs

c.595_596fs

1 paper

NM_152699.5

p.C199_Q201delFs

c.597_603del7