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

2 papers

NM_015306.3

p.D1007G

c.3020A>G

Surrounding Variants

1 paper

NM_015306.3

p.Q1002K

c.3004C>A

1 paper

NM_015306.3

p.S1025F

c.3074C>T

1 paper

NM_015306.3

p.S1044fs

c.3130_3131fs

1 paper

NM_015306.3

p.S1054G

c.3160A>G

1 paper

NM_015306.3

p.S1055_S1056del1

c.3165_3167delCTG

1 paper

NM_015306.3

p.S1055_S1056del2

c.3163_3167del6

1 paper

NM_015306.3

p.S1062S

c.3186A>G

1 paper

NM_015306.3

p.E976K

c.2926G>A

1 paper

NM_015306.3

p.N963S

c.2888A>G

1 paper

NM_015306.3

p.H951Y

c.2851C>T

1 paper

NM_015306.3

p.R946Q

c.2837G>A

1 paper

NM_015306.3

p.R917Splc

c.2751-86T>C