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

2 papers

NM_001365479.2

p.L752ins1

c.2255_2256insGAA

Surrounding Variants

1 paper

NM_001365479.2

p.I749F

c.2245A>T

1 paper

NM_001365479.2

p.T775_M776Splc

c.2326-1G>A

1 paper

NM_001365479.2

p.Q727Q

c.2181G>A

1 paper

NM_001365479.2

p.S723L

c.2168C>T

1 paper

NM_001365479.2

p.G686D

c.2057G>A

2 papers

NM_001365479.2

p.L678P

c.2033T>C

1 paper

NM_001365479.2

p.E640K

c.1918G>A

1 paper

NM_001365479.2

p.L545V

c.1633C>G

1 paper

NM_001365479.2

p.R492Q

c.1475G>A