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.N425S

c.1274A>G

Surrounding Variants

1 paper

NM_015306.3

p.L465P

c.1394T>C

1 paper

NM_015306.3

p.K480N

c.1440G>T

1 paper

NM_015306.3

p.K480N

c.1440G>C

1 paper

NM_015306.3

p.D389D

c.1167T>C

1 paper

NM_015306.3

p.P377A

c.1129C>G

1 paper

NM_015306.3

p.R374C

c.1120C>T

1 paper

NM_015306.3

p.P362L

c.1085C>T

1 paper

NM_015306.3

p.D352delFs

c.1055_1056delGT

1 paper

NM_015306.3

p.E349D

c.1047A>T

1 paper

NM_015306.3

p.E349D

c.1047A>C

1 paper

NM_015306.3

p.R346W

c.1036C>T

1 paper

NM_015306.3

p.Q343H

c.1029G>T