Varaico: Literature-Extracted Genetic Variants

USP24

167 papers

RefSeq Summary

Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP24 belongs t...

Pfam Domains

ARM_UBP24_USP9X-Yaa 381–800UCSCUBP24/USP9X/USP9Y ARM repeat

UCH_UBL1aa 955–1036UCSCUbiquitin carboxyl-terminal hydrolases, Ubiquitin-like 1

UCHaa 1689–2039UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 24

HGNC Alias Symbol

KIAA1057

Papers

RefSeq ID

Protein change

DNA change

1–12 of 221 variants

11 papers

NM_015306.3

p.T226I

c.677C>T

10 papers

NM_015306.3

p.V2468A

c.7403T>C

3 papers

NM_015306.3

p.I342V

c.1024A>G

2 papers

NM_015306.3

p.S3*

c.8C>A

2 papers

NM_015306.3

p.D111E

c.333T>G

2 papers

NM_015306.3

p.D111E

c.333T>A

2 papers

NM_015306.3

p.E148V

c.443A>T

2 papers

NM_015306.3

p.T158A

c.472A>G

2 papers

NM_015306.3

p.E523K

c.1567G>A

2 papers

NM_015306.3

p.C679*

c.2037T>A

2 papers

NM_015306.3

p.D1007G

c.3020A>G

2 papers

NM_015306.3

p.A1166V

c.3497C>T