Varaico: Literature-Extracted Genetic Variants

USP40

45 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. USP40 belongs t...

Pfam Domains

UCHaa 41–87UCSCUbiquitin carboxyl-terminal hydrolase

UCHaa 41–341UCSCUbiquitin carboxyl-terminal hydrolase

UBL_USP40aa 842–929UCSCUSP40 ubiquitin-like domain

Gene Aliases

HGNC Name

ubiquitin specific peptidase 40

HGNC Alias Symbol

FLJ10785

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001365479.2

p.L394delFs

c.1181_1182delGA

Surrounding Variants

1 paper

NM_001365479.2

p.R492Q

c.1475G>A

1 paper

NM_001365479.2

p.L545V

c.1633C>G

1 paper

NM_001365479.2

p.G386del1

c.1156_1158delTCC

1 paper

NM_001365479.2

p.H385_G386del1

c.1154_1156delCAT

1 paper

NM_001365479.2

p.K368E

c.1102A>G

1 paper

NM_001365479.2

p.D329V

c.986A>T