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.L1206F

c.3616C>T

Surrounding Variants

1 paper

NM_015306.3

p.G1210S

c.3628G>A

1 paper

NM_015306.3

p.L1175R

c.3524T>G

1 paper

NM_015306.3

p.R1173T

c.3518G>C

2 papers

NM_015306.3

p.A1166V

c.3497C>T

1 paper

NM_015306.3

p.K1127_K1128Splc

c.3382-173T>C

1 paper

NM_015306.3

p.E1230Q

c.3688G>C

1 paper

NM_015306.3

p.V1235I

c.3703G>A

1 paper

NM_015306.3

p.L1260P

c.3779T>C

1 paper

NM_015306.3

p.P1290P

c.3870A>T

1 paper

NM_015306.3

p.S1294C

c.3881C>G

1 paper

NM_015306.3

p.S1299S

c.3897C>G

1 paper

NM_015306.3

p.S1305F

c.3914C>T