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

1–12 of 260 variants

45 papers

NM_005154.5

p.P720R

c.2159C>G

39 papers

NM_005154.5

p.S719del1

c.2155_2156delTCC

39 papers

NM_005154.5

p.S718P

c.2152T>C

29 papers

NM_005154.5

p.P720Q

c.2159C>A

14 papers

NM_005154.5

p.S718C

c.2153C>G

14 papers

NM_005154.5

p.C786S

c.2356T>A

14 papers

NM_005154.5

p.C786S

c.2357G>C

13 papers

NM_005154.5

p.S719P

c.2155T>C

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

7 papers

NM_005154.5

p.Y717C

c.2150A>G