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.Q612H

c.1836A>T

Surrounding Variants

2 papers

NM_020654.5

p.Q612H

c.1836A>C

1 paper

NM_020654.5

p.F551C

c.1652T>G

2 papers

NM_020654.5

p.K545delFs

c.1635delT

3 papers

NM_020654.5

p.K545fs

c.1633_1634fs

1 paper

NM_020654.5

p.R630G

c.1888A>G

1 paper

NM_020654.5

p.D637Y

c.1909G>T

1 paper

NM_020654.5

p.L667F

c.1999C>T

1 paper

NM_020654.5

p.T706K

c.2117C>A

1 paper

NM_020654.5

p.V762A

c.2285T>C