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

2 papers

NM_001267594.2

p.K409delFs

c.1227delT

Surrounding Variants

2 papers

NM_001267594.2

p.G410fs

c.1228_1229fs

1 paper

NM_001267594.2

p.K409insFs

c.1227dupA

3 papers

NM_001267594.2

p.G410fs

c.1228_1229fs

1 paper

NM_001267594.2

p.E422K

c.1264G>A

1 paper

NM_001267594.2

p.H389Y

c.1165C>T

1 paper

NM_001267594.2

p.D384A

c.1151A>C

1 paper

NM_001267594.2

p.R378W

c.1132C>T

1 paper

NM_001267594.2

p.L375L

c.1125G>A

1 paper

NM_001267594.2

p.L368L

c.1102T>C

1 paper

NM_001267594.2

p.Q363P

c.1088A>C

1 paper

NM_001267594.2

p.R354Q

c.1061G>A

1 paper

NM_001267594.2

p.Q440H

c.1320G>T