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.E1555Q

c.4663G>C

Surrounding Variants

1 paper

NM_015306.3

p.W1544L

c.4631G>T

1 paper

NM_015306.3

p.E1541A

c.4622A>C

1 paper

NM_015306.3

p.D1540E

c.4620T>G

1 paper

NM_015306.3

p.D1540E

c.4620T>A

1 paper

NM_015306.3

p.E1528K

c.4582G>A

1 paper

NM_015306.3

p.G1588S

c.4762G>A

1 paper

NM_015306.3

p.A1618T

c.4852G>A

1 paper

NM_015306.3

p.I1619V

c.4855A>G

1 paper

NM_015306.3

p.D1521N

c.4561G>A

1 paper

NM_015306.3

p.R1503Splc

c.4509-226A>G

1 paper

NM_015306.3

p.N1632T

c.4895A>C

1 paper

NM_015306.3

p.R1634L

c.4901G>T