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.L311_N312insFs

c.933_934insGA

Surrounding Variants

1 paper

NM_032236.8

p.N312fs

c.934_935fs

1 paper

NM_032236.8

p.K308N

c.924G>T

1 paper

NM_032236.8

p.K308N

c.924G>C

1 paper

NM_032236.8

p.F317L

c.949T>C

1 paper

NM_032236.8

p.F317L

c.951C>G

1 paper

NM_032236.8

p.F317L

c.951C>A

1 paper

NM_032236.8

p.R298C

c.892C>T

1 paper

NM_032236.8

p.T291A

c.871A>G

2 papers

NM_032236.8

p.C273Y

c.818G>A

1 paper

NM_032236.8

p.E271*

c.811G>T

1 paper

NM_032236.8

p.C270Y

c.809G>A

1 paper

NM_032236.8

p.R267P

c.800G>C