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.D441_R442delFs

c.1323_1326del4

Surrounding Variants

1 paper

NM_032236.8

p.K459_Q460ins2

c.1377_1378ins6

1 paper

NM_032236.8

p.A434Splc

c.1300+332T>C

1 paper

NM_032236.8

p.L420V

c.1258C>G

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

1 paper

NM_032236.8

p.T407S

c.1220C>G

1 paper

NM_032236.8

p.T407S

c.1219A>T

3 papers

NM_032236.8

p.G406R

c.1216G>C

3 papers

NM_032236.8

p.G406R

c.1216G>A

1 paper

NM_032236.8

p.K402R

c.1205A>G