Varaico: Literature-Extracted Genetic Variants

USP48

97 papers

RefSeq Summary

This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitin...

Pfam Domains

UCHaa 89–418UCSCUbiquitin carboxyl-terminal hydrolase

DUSPaa 483–554UCSCDUSP domain

Gene Aliases

HGNC Name

ubiquitin specific peptidase 48

HGNC Alias Symbols

FLJ23277; FLJ11328; FLJ20103; FLJ23054; MGC14879

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_032236.8

p.R45Splc

c.134+5794C>T

Surrounding Variants

1 paper

NM_032236.8

p.R45Splc

c.134+9977C>T

1 paper

NM_032236.8

p.L36R

c.107T>G

1 paper

NM_032236.8

p.T17A

c.49A>G

1 paper

NM_032236.8

p.A15insFs

c.45dupG

1 paper

NM_032236.8

p.M1K

c.2T>A