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

1–12 of 108 variants

13 papers

NM_032236.8

p.M415I

c.1245G>T

13 papers

NM_032236.8

p.M415I

c.1245G>C

13 papers

NM_032236.8

p.M415I

c.1245G>A

9 papers

NM_032236.8

p.M415V

c.1243A>G

7 papers

NM_032236.8

p.C98S

c.292T>A

7 papers

NM_032236.8

p.C98S

c.293G>C

4 papers

NM_032236.8

p.I796V

c.2386A>G

3 papers

NM_032236.8

p.G406R

c.1216G>C

3 papers

NM_032236.8

p.G406R

c.1216G>A

2 papers

NM_032236.8

p.C273Y

c.818G>A

1 paper

NM_032236.8

p.M1K

c.2T>A

1 paper

NM_032236.8

p.A15insFs

c.45dupG