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

Selected Variant

2 papers

NM_015571.4

p.I256V

c.766A>G

Surrounding Variants

1 paper

NM_015571.4

p.Q300*

c.898C>T

1 paper

NM_015571.4

p.N302D

c.904A>G

1 paper

NM_015571.4

p.L318L

c.954G>A

1 paper

NM_015571.4

p.S358L

c.1073C>T

1 paper

NM_015571.4

p.T217I

c.650C>T

1 paper

NM_015571.4

p.P216A

c.646C>G

1 paper

NM_015571.4

p.K208K

c.624A>G

1 paper

NM_015571.4

p.K204R

c.611A>G

1 paper

NM_015571.4

p.K204E

c.610A>G

1 paper

NM_015571.4

p.R421C

c.1261C>T