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

1–12 of 70 variants

18 papers

NM_001267594.2

p.C603S

c.1807T>A

18 papers

NM_001267594.2

p.C603S

c.1808G>C

7 papers

NM_001267594.2

p.V201V

c.603C>A

3 papers

NM_001267594.2

p.S80G

c.238A>G

3 papers

NM_001267594.2

p.G410fs

c.1228_1229fs

2 papers

NM_001267594.2

p.G410fs

c.1228_1229fs

2 papers

NM_001267594.2

p.K409delFs

c.1227delT

1 paper

NM_001267594.2

p.D3V

c.8A>T

1 paper

NM_001267594.2

p.D6Y

c.16G>T

1 paper

NM_001267594.2

p.D11E

c.33T>A

1 paper

NM_001267594.2

p.E14K

c.40G>A

1 paper

NM_001267594.2

p.N19Y

c.55A>T