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.M129I

c.387G>A

Surrounding Variants

1 paper

NM_001365479.2

p.M129I

c.387G>T

1 paper

NM_001365479.2

p.M129I

c.387G>C

1 paper

NM_001365479.2

p.R181K

c.542G>A

1 paper

NM_001365479.2

p.D184Y

c.550G>T

1 paper

NM_001365479.2

p.D184N

c.550G>A

1 paper

NM_001365479.2

p.D184G

c.551A>G

1 paper

NM_001365479.2

p.E127K

c.379G>A

1 paper

NM_001365479.2

p.D108Y

c.322G>T

1 paper

NM_001365479.2

p.P94A

c.280C>G

1 paper

NM_001365479.2

p.R258C

c.772C>T

1 paper

NM_001365479.2

p.R270W

c.808C>T

1 paper

NM_001365479.2

p.K274Q

c.820A>C