Varaico: Literature-Extracted Genetic Variants

USP8

317 papers

RefSeq Summary

This gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination o...

Pfam Domains

USP8_dimeraa 6–116UCSCUSP8 dimerisation domain

Rhodaneseaa 184–307UCSCRhodanese-like domain

WW_USP8aa 648–680UCSCUSP8 WW domain

UCHaa 777–1106UCSCUbiquitin carboxyl-terminal hydrolase

Gene Aliases

HGNC Name

ubiquitin specific peptidase 8

HGNC Alias Symbols

HumORF8; KIAA0055; UBPY; SPG59

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

14 papers

NM_005154.5

p.C786S

c.2356T>A

Surrounding Variants

14 papers

NM_005154.5

p.C786S

c.2357G>C

5 papers

NM_005154.5

p.T785A

c.2353A>G

6 papers

NM_005154.5

p.L776P

c.2327T>C

1 paper

NM_005154.5

p.N797N

c.2391C>T

7 papers

NM_005154.5

p.A798P

c.2392G>C

4 papers

NM_005154.5

p.G771S

c.2311G>A

1 paper

NM_005154.5

p.N806Y

c.2416A>T

1 paper

NM_005154.5

p.L765R

c.2294T>G

10 papers

NM_005154.5

p.N764K

c.2292C>A

10 papers

NM_005154.5

p.N764K

c.2292C>G

9 papers

NM_005154.5

p.R763W

c.2287C>T

1 paper

NM_005154.5

p.R816S

c.2448G>C