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

13 papers

NM_005154.5

p.S719P

c.2155T>C

Surrounding Variants

1 paper

NM_005154.5

p.S718S

c.2154C>T

1 paper

NM_005154.5

p.S719_Q724del0

c.2157_2171del15

2 papers

NM_005154.5

p.S719_Q724delins

c.2156_2171delinsT

1 paper

NM_005154.5

p.S719_Q724del0

c.2155_2172del18

2 papers

NM_005154.5

p.S718Y

c.2153C>A

14 papers

NM_005154.5

p.S718C

c.2153C>G

6 papers

NM_005154.5

p.S718F

c.2153C>T

2 papers

NM_005154.5

p.P720A

c.2158C>G

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

29 papers

NM_005154.5

p.P720Q

c.2159C>A