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.G309_A310Splc

c.927+6T>A

Surrounding Variants

1 paper

NM_015306.3

p.E307*

c.919G>T

1 paper

NM_015306.3

p.A310A

c.930T>C

1 paper

NM_015306.3

p.L318*

c.953T>A

1 paper

NM_015306.3

p.Q331_P332Splc

c.993+6A>G

1 paper

NM_015306.3

p.G260E

c.779G>A

1 paper

NM_015306.3

p.E241D

c.723A>T

1 paper

NM_015306.3

p.E241D

c.723A>C

1 paper

NM_015306.3

p.P238S

c.712C>T

1 paper

NM_015306.3

p.M234_A235Splc

c.703-82A>G

1 paper

NM_015306.3

p.D335H

c.1003G>C

3 papers

NM_015306.3

p.I342V

c.1024A>G

1 paper

NM_015306.3

p.Q343H

c.1029G>T