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.R805delFs

c.2413delG

Surrounding Variants

1 paper

NM_015306.3

p.R805fs

c.2413_2414fs

1 paper

NM_015306.3

p.L791*

c.2372T>G

1 paper

NM_015306.3

p.L791*

c.2372T>A

1 paper

NM_015306.3

p.M831V

c.2491A>G

1 paper

NM_015306.3

p.Q844H

c.2532G>T

1 paper

NM_015306.3

p.D861N

c.2581G>A

1 paper

NM_015306.3

p.S862L

c.2585C>T

1 paper

NM_015306.3

p.E780V

c.2339A>T

1 paper

NM_015306.3

p.A880T

c.2638G>A

1 paper

NM_015306.3

p.S882L

c.2645C>T

1 paper

NM_015306.3

p.P887P

c.2661C>T

1 paper

NM_015306.3

p.T907P

c.2719A>C