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

1–12 of 85 variants

5 papers

NM_020654.5

p.Q492*

c.1474C>T

3 papers

NM_020654.5

p.G448G

c.1344A>T

3 papers

NM_020654.5

p.K545fs

c.1633_1634fs

2 papers

NM_020654.5

p.K79Q

c.235A>C

2 papers

NM_020654.5

p.S228L

c.683C>T

2 papers

NM_020654.5

p.E294*

c.880G>T

2 papers

NM_020654.5

p.Q325*

c.973C>T

2 papers

NM_020654.5

p.K545delFs

c.1635delT

2 papers

NM_020654.5

p.Q612H

c.1836A>T

2 papers

NM_020654.5

p.Q612H

c.1836A>C

2 papers

NM_020654.5

p.Q881*

c.2641C>T

1 paper

NM_020654.5

p.K3R

c.8A>G