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

1 paper

NM_005154.5

p.Y717_S719delFs

c.2151_2157del7

Surrounding Variants

2 papers

NM_005154.5

p.Y717S

c.2150A>C

7 papers

NM_005154.5

p.Y717C

c.2150A>G

39 papers

NM_005154.5

p.S719del1

c.2155_2156delTCC

39 papers

NM_005154.5

p.S718P

c.2152T>C

3 papers

NM_005154.5

p.S718A

c.2152T>G

1 paper

NM_005154.5

p.S718_P720delins

c.2152_2158delinsA

2 papers

NM_005154.5

p.S718Y

c.2153C>A

1 paper

NM_005154.5

p.S716Y

c.2147C>A

14 papers

NM_005154.5

p.S718C

c.2153C>G

6 papers

NM_005154.5

p.S718F

c.2153C>T

3 papers

NM_005154.5

p.S716F

c.2147C>T

1 paper

NM_005154.5

p.S718S

c.2154C>T