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.E1770Q

c.5308G>C

Surrounding Variants

1 paper

NM_015306.3

p.V1731M

c.5191G>A

1 paper

NM_015306.3

p.D1723Y

c.5167G>T

1 paper

NM_015306.3

p.L1718L

c.5154T>C

1 paper

NM_015306.3

p.Q1803L

c.5408A>T

1 paper

NM_015306.3

p.E1715Q

c.5143G>C

1 paper

NM_015306.3

p.Y1708_M1709insFs

c.5124_5125insT

1 paper

NM_015306.3

p.E1839E

c.5517A>G

1 paper

NM_015306.3

p.V1882V

c.5646A>G

1 paper

NM_015306.3

p.M1886R

c.5657T>G

1 paper

NM_015306.3

p.G1940S

c.5818G>A

1 paper

NM_015306.3

p.R1945Q

c.5834G>A

1 paper

NM_015306.3

p.R1979Q

c.5936G>A