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

Selected Variant

1 paper

NM_015306.3

p.Y2568C

c.7703A>G

Surrounding Variants

2 papers

NM_015306.3

p.T2565M

c.7694C>T

1 paper

NM_015306.3

p.E2592K

c.7774G>A

1 paper

NM_015306.3

p.Q2600_G2601Splc

c.7800+13G>C

1 paper

NM_015306.3

p.T2552T

c.7656T>C

1 paper

NM_015306.3

p.K2534fs

c.7600_7601fs

1 paper

NM_015306.3

p.K2534insFs

c.7601_7602insTT

1 paper

NM_015306.3

p.F2502I

c.7504T>A

1 paper

NM_015306.3

p.M2485I

c.7455G>T

1 paper

NM_015306.3

p.M2485I

c.7455G>C

1 paper

NM_015306.3

p.M2485I

c.7455G>A

1 paper

NM_015306.3

p.A2483Splc

c.7448-7C>T

1 paper

NM_015306.3

p.E2476V

c.7427A>T