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.S2067S

c.6201T>A

Surrounding Variants

1 paper

NM_015306.3

p.D2065Y

c.6193G>T

1 paper

NM_015306.3

p.R2060W

c.6178C>T

1 paper

NM_015306.3

p.V2058I

c.6172G>A

1 paper

NM_015306.3

p.R2055*

c.6163C>T

1 paper

NM_015306.3

p.Y2031D

c.6091T>G

1 paper

NM_015306.3

p.R2029*

c.6085C>T

1 paper

NM_015306.3

p.R2083Q

c.6248G>A

1 paper

NM_015306.3

p.N2089S

c.6266A>G

1 paper

NM_015306.3

p.R2091W

c.6271C>T

1 paper

NM_015306.3

p.T2096del1

c.6286_6287delGGT

1 paper

NM_015306.3

p.K2101fs

c.6301_6302fs

1 paper

NM_015306.3

p.K2101delFs

c.6303delT