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.C560S

c.1678T>A

Surrounding Variants

1 paper

NM_001267594.2

p.C560S

c.1679G>C

1 paper

NM_001267594.2

p.L564Splc

c.1691+36C>T

1 paper

NM_001267594.2

p.K543R

c.1628A>G

1 paper

NM_001267594.2

p.C535S

c.1604G>C

1 paper

NM_001267594.2

p.C535S

c.1603T>A

1 paper

NM_001267594.2

p.K568R

c.1703A>G

1 paper

NM_001267594.2

p.D580H

c.1738G>C

1 paper

NM_001267594.2

p.Q507*

c.1519C>T

1 paper

NM_001267594.2

p.K502R

c.1505A>G

1 paper

NM_001267594.2

p.K590N

c.1770A>T

1 paper

NM_001267594.2

p.K590N

c.1770A>C

1 paper

NM_001267594.2

p.E484Q

c.1450G>C