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.D2254E

c.6762T>G

Surrounding Variants

1 paper

NM_015306.3

p.D2254E

c.6762T>A

1 paper

NM_015306.3

p.Q2261R

c.6782A>G

1 paper

NM_015306.3

p.Q2325_I2326Splc

c.6975+1G>T

1 paper

NM_015306.3

p.L2221F

c.6663G>T

1 paper

NM_015306.3

p.L2221F

c.6663G>C

1 paper

NM_015306.3

p.E2217*

c.6649G>T

2 papers

NM_015306.3

p.R2327C

c.6979C>T

1 paper

NM_015306.3

p.R2185Splc

c.6554+126G>T

1 paper

NM_015306.3

p.V2164M

c.6490G>A

1 paper

NM_015306.3

p.R2367*

c.7099C>T

1 paper

NM_015306.3

p.P2377L

c.7130C>T

1 paper

NM_015306.3

p.F2390F

c.7170C>T