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.R637R

c.1911T>C

Surrounding Variants

1 paper

NM_015306.3

p.K653K

c.1959G>A

1 paper

NM_015306.3

p.D655N

c.1963G>A

1 paper

NM_015306.3

p.K656_S657Splc

c.1969-48T>C

1 paper

NM_015306.3

p.D661Y

c.1981G>T

2 papers

NM_015306.3

p.C679*

c.2037T>A

1 paper

NM_015306.3

p.R681Q

c.2042G>A

1 paper

NM_015306.3

p.S695L

c.2084C>T

1 paper

NM_015306.3

p.Y702D

c.2104T>G

1 paper

NM_015306.3

p.R730H

c.2189G>A

1 paper

NM_015306.3

p.D743A

c.2228A>C

1 paper

NM_015306.3

p.D748Y

c.2242G>T

1 paper

NM_015306.3

p.E780V

c.2339A>T