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

4 papers

NM_032236.8

p.I796V

c.2386A>G

Surrounding Variants

1 paper

NM_032236.8

p.W800*

c.2399G>A

1 paper

NM_032236.8

p.W800*

c.2400G>A

1 paper

NM_032236.8

p.V812I

c.2434G>A

1 paper

NM_032236.8

p.L856L

c.2568G>C

1 paper

NM_032236.8

p.K794E

c.2380A>G

1 paper

NM_032236.8

p.S793P

c.2377T>C

1 paper

NM_032236.8

p.M782V

c.2344A>G

1 paper

NM_032236.8

p.G780V

c.2339G>T

1 paper

NM_032236.8

p.R754delFs

c.2260delG

1 paper

NM_032236.8

p.Q747H

c.2241G>T

1 paper

NM_032236.8

p.Q747H

c.2241G>C

1 paper

NM_032236.8

p.V745M

c.2233G>A