Varaico: Literature-Extracted Genetic Variants

SENP7

67 papers

RefSeq Summary

The reversible posttranslational modification of proteins by the addition of small ubiquitin-like SUMO proteins (see SUMO1; MIM 601912) is required for many cellular processes. SUMO-specific proteases...

Pfam Domains

Peptidase_C48aa 709–972UCSCUlp1 protease family, C-terminal catalytic domain

Gene Aliases

HGNC Name

SUMO specific peptidase 7

HGNC Previous Names

SUMO1/sentrin specific protease 7; SUMO1/sentrin specific peptidase 7

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_020654.5

p.Q325*

c.973C>T

Surrounding Variants

1 paper

NM_020654.5

p.S313F

c.938C>T

1 paper

NM_001282803.2

p.S135_R136insA

c.403_407ins3

2 papers

NM_020654.5

p.E294*

c.880G>T

1 paper

NM_020654.5

p.S281I

c.842G>T

1 paper

NM_020654.5

p.H276P

c.827A>C

1 paper

NM_020654.5

p.K341T

c.1022A>C

1 paper

NM_020654.5

p.I356F

c.1066A>T

1 paper

NM_020654.5

p.L378F

c.1134G>T

1 paper

NM_020654.5

p.L378F

c.1134G>C

1 paper

NM_001282803.2

p.N234_S235insA

c.700_704ins3

1 paper

NM_020654.5

p.I400V

c.1198A>G

1 paper

NM_020654.5

p.V403L

c.1207G>T