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

1 paper

NM_015571.4

p.Q515H

c.1545A>T

Surrounding Variants

1 paper

NM_015571.4

p.Q515H

c.1545A>C

1 paper

NM_015571.4

p.Q520H

c.1560A>C

1 paper

NM_015571.4

p.Q520H

c.1560A>T

1 paper

NM_015571.4

p.L491V

c.1471C>G

1 paper

NM_001100409.3

p.D483H

c.1447G>C

1 paper

NM_015571.4

p.I470V

c.1408A>G

1 paper

NM_015571.4

p.Y546*

c.1638T>A

1 paper

NM_015571.4

p.Y546*

c.1638T>G

1 paper

NM_015571.4

p.N560D

c.1678A>G

1 paper

NM_015571.4

p.M561V

c.1681A>G

1 paper

NM_015571.4

p.S565G

c.1693A>G

1 paper

NM_015571.4

p.I566V

c.1696A>G