Varaico: Literature-Extracted Genetic Variants

SENP6

58 papers

RefSeq Summary

Ubiquitin-like molecules (UBLs), such as SUMO1 (UBL1; MIM 601912), are structurally related to ubiquitin (MIM 191339) and can be ligated to target proteins in a similar manner as ubiquitin. However, c...

Pfam Domains

Peptidase_C48aa 680–832UCSCUlp1 protease family, C-terminal catalytic domain

Peptidase_C48aa 960–1073UCSCUlp1 protease family, C-terminal catalytic domain

Gene Aliases

HGNC Name

SUMO specific peptidase 6

HGNC Alias Symbols

SUSP1; KIAA0797

Papers

RefSeq ID

Protein change

DNA change

1–12 of 68 variants

2 papers

NM_015571.4

p.I256V

c.766A>G

2 papers

NM_015571.4

p.F757L

c.2269T>C

2 papers

NM_015571.4

p.F757L

c.2271T>A

2 papers

NM_015571.4

p.F757L

c.2271T>G

2 papers

NM_015571.4

p.G775S

c.2323G>A

2 papers

NM_015571.4

p.Q794*

c.2380C>T

1 paper

NM_015571.4

p.S6insFs

c.16dupA

1 paper

NM_015571.4

p.D27N

c.79G>A

1 paper

NM_015571.4

p.K48R

c.143A>G

1 paper

NM_015571.4

p.N120Y

c.358A>T

1 paper

NM_015571.4

p.T121M

c.362C>T

1 paper

NM_015571.4

p.D156N

c.466G>A