Varaico: Literature-Extracted Genetic Variants

UCHL3

47 papers

RefSeq Summary

The protein encoded by this gene is a member of the deubiquitinating enzyme family. Members of this family are proteases that catalyze the removal of ubiquitin from polypeptides and are divided into f...

Pfam Domains

Peptidase_C12aa 6–214UCSCUbiquitin carboxyl-terminal hydrolase, family 1

Gene Aliases

HGNC Name

ubiquitin C-terminal hydrolase L3

HGNC Previous Name

ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)

Papers

RefSeq ID

Protein change

DNA change

1–12 of 20 variants

3 papers

NM_006002.5

p.C95S

c.283T>A

3 papers

NM_006002.5

p.C95S

c.284G>C

2 papers

NM_006002.5

p.S75A

c.223T>G

1 paper

NM_006002.5

p.M1L

c.1A>T

1 paper

NM_006002.5

p.R5C

c.13C>T

1 paper

NM_006002.5

p.N12S

c.35A>G

1 paper

NM_006002.5

p.Q30K

c.88C>A

1 paper

NM_006002.5

p.D33A

c.98A>C

1 paper

NM_001270952.2

p.F50I

c.148T>A

1 paper

NM_006002.5

p.Q89K

c.265C>A

1 paper

NM_006002.5

p.Q89E

c.265C>G

1 paper

NM_006002.5

p.G96V

c.287G>T