Varaico: Literature-Extracted Genetic Variants

SENP1

117 papers

RefSeq Summary

This gene encodes a cysteine protease that specifically targets members of the small ubiquitin-like modifier (SUMO) protein family. This protease regulates SUMO pathways by deconjugating sumoylated pr...

Pfam Domains

Peptidase_C48aa 464–643UCSCUlp1 protease family, C-terminal catalytic domain

Gene Aliases

HGNC Name

SUMO specific peptidase 1

HGNC Previous Names

SUMO1/sentrin specific protease 1; SUMO1/sentrin specific peptidase 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001267594.2

p.D86G

c.257A>G

Surrounding Variants

1 paper

NM_001267594.2

p.F81C

c.242T>G

1 paper

NM_001267594.2

p.Q92H

c.276G>T

1 paper

NM_001267594.2

p.Q92H

c.276G>C

3 papers

NM_001267594.2

p.S80G

c.238A>G

1 paper

NM_001267594.2

p.W98R

c.292T>C

1 paper

NM_001267594.2

p.W98R

c.292T>A

1 paper

NM_001267594.2

p.T102A

c.304A>G

1 paper

NM_001267594.2

p.Q110E

c.328C>G

1 paper

NM_001267594.2

p.S115N

c.344G>A

1 paper

NM_001267594.2

p.R116Q

c.347G>A

1 paper

NM_001267594.2

p.E121K

c.361G>A

1 paper

NM_001267594.2

p.R123Q

c.368G>A