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.H102Q

c.306C>G

Surrounding Variants

1 paper

NM_015306.3

p.V105A

c.314T>C

1 paper

NM_015306.3

p.D106H

c.316G>C

1 paper

NM_015306.3

p.R71L

c.212G>T

1 paper

NM_015306.3

p.G60D

c.179G>A

1 paper

NM_015306.3

p.L48L

c.144C>G

1 paper

NM_015306.3

p.L40L

c.118C>T

1 paper

NM_015306.3

p.R24G

c.70C>G

1 paper

NM_015306.3

p.E6K

c.16G>A

1 paper

NM_015306.3

p.S3insFs

c.8_9insT

2 papers

NM_015306.3

p.S3*

c.8C>A