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.I722R

c.2165T>G

Surrounding Variants

2 papers

NM_005154.5

p.D721E

c.2163T>A

2 papers

NM_005154.5

p.D721E

c.2163T>G

1 paper

NM_005154.5

p.T723I

c.2168C>T

1 paper

NM_005154.5

p.Q724del1

c.2170_2171delCAG

5 papers

NM_005154.5

p.D721N

c.2161G>A

1 paper

NM_005154.5

p.D721del1

c.2161_2162delGAT

29 papers

NM_005154.5

p.P720Q

c.2159C>A

45 papers

NM_005154.5

p.P720R

c.2159C>G

2 papers

NM_005154.5

p.P720A

c.2158C>G

3 papers

NM_005154.5

p.A725T

c.2173G>A

1 paper

NM_005154.5

p.A725D

c.2174C>A

1 paper

NM_005154.5

p.S719_Q724del0

c.2157_2171del15