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.K2438_N2439Splc

c.7315-126A>G

Surrounding Variants

1 paper

NM_015306.3

p.T2452A

c.7354A>G

1 paper

NM_015306.3

p.F2453S

c.7358T>C

1 paper

NM_015306.3

p.M2433fs

c.7297_7298fs

1 paper

NM_015306.3

p.S2430T

c.7288T>A

1 paper

NM_015306.3

p.Y2421C

c.7262A>G

1 paper

NM_015306.3

p.E2407G

c.7220A>G

1 paper

NM_015306.3

p.D2464N

c.7390G>A

10 papers

NM_015306.3

p.V2468A

c.7403T>C

1 paper

NM_015306.3

p.E2476V

c.7427A>T

1 paper

NM_015306.3

p.G2394A

c.7181G>C

1 paper

NM_015306.3

p.E2393K

c.7177G>A

1 paper

NM_015306.3

p.F2390F

c.7170C>T