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

1 paper

NM_020654.5

p.R466G

c.1396C>G

Surrounding Variants

1 paper

NM_020654.5

p.R466H

c.1397G>A

1 paper

NM_020654.5

p.E467*

c.1399G>T

1 paper

NM_020654.5

p.E467K

c.1399G>A

3 papers

NM_020654.5

p.G448G

c.1344A>T

1 paper

NM_020654.5

p.I486S

c.1457T>G

5 papers

NM_020654.5

p.Q492*

c.1474C>T

1 paper

NM_020654.5

p.I440Splc

c.1319-8C>T

1 paper

NM_020654.5

p.I440Splc

c.1319-9C>T

1 paper

NM_020654.5

p.E413K

c.1237G>A

1 paper

NM_020654.5

p.V403L

c.1207G>T

1 paper

NM_020654.5

p.V403L

c.1207G>C

1 paper

NM_020654.5

p.I400V

c.1198A>G