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.Y194N

c.580T>A

Surrounding Variants

1 paper

NM_001267594.2

p.I193S

c.578T>G

7 papers

NM_001267594.2

p.V201V

c.603C>A

1 paper

NM_001267594.2

p.G203V

c.608G>T

1 paper

NM_001267594.2

p.S240P

c.718T>C

1 paper

NM_001267594.2

p.A242V

c.725C>T

1 paper

NM_001267594.2

p.P277S

c.829C>T

1 paper

NM_001267594.2

p.L289V

c.865C>G

1 paper

NM_001267594.2

p.S332Splc

c.996-3T>C

1 paper

NM_001267594.2

p.R177Q

c.530G>A

1 paper

NM_001267594.2

p.K173E

c.517A>G

1 paper

NM_001267594.2

p.W160L

c.479G>T

1 paper

NM_001267594.2

p.P156S

c.466C>T