Varaico: Literature-Extracted Genetic Variants

USP15

84 papers

RefSeq Summary

This gene encodes a member of the ubiquitin specific protease (USP) family of deubiquitinating enzymes. USP enzymes play critical roles in ubiquitin-dependent processes through polyubiquitin chain dis...

Pfam Domains

DUSPaa 27–119UCSCDUSP domain

Ubiquitin_3aa 135–222UCSCUbiquitin-like domain

UCHaa 289–930UCSCUbiquitin carboxyl-terminal hydrolase

USP7_C2aa 461–608UCSCUbiquitin-specific protease C-terminal

Gene Aliases

HGNC Name

ubiquitin specific peptidase 15

HGNC Alias Symbols

KIAA0529; UNPH4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001252078.2

p.K116_V117Splc

c.348+9T>C

Surrounding Variants

1 paper

NM_001252078.2

p.R115Q

c.344G>A

1 paper

NM_001252078.2

p.P112Q

c.335C>A

5 papers

NM_001252078.2

p.L100I

c.298C>A

1 paper

NM_001252078.2

p.I90I

c.270A>T

1 paper

NM_001252078.2

p.A76A

c.228C>T

1 paper

NM_001252078.2

p.D73E

c.219T>A

1 paper

NM_001252078.2

p.G56*

c.166G>T

1 paper

NM_001252078.2

p.Y53*

c.159C>A

1 paper

NM_001252078.2

p.Y53*

c.159C>G

1 paper

NM_001252078.2

p.K52*

c.154A>T

1 paper

NM_001252078.2

p.W50*

c.150G>A

1 paper

NM_001252078.2

p.W50*

c.149G>A