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.K231E

c.691A>G

Surrounding Variants

1 paper

NM_032236.8

p.Q225R

c.674A>G

1 paper

NM_032236.8

p.C223*

c.669C>A

1 paper

NM_032236.8

p.T250I

c.749C>T

1 paper

NM_032236.8

p.D251N

c.751G>A

1 paper

NM_032236.8

p.L257F

c.771G>T

1 paper

NM_032236.8

p.L257F

c.771G>C

1 paper

NM_032236.8

p.K258T

c.773A>C

1 paper

NM_032236.8

p.V205L

c.613G>T

1 paper

NM_032236.8

p.V205L

c.613G>C

1 paper

NM_032236.8

p.Q178K

c.532C>A

1 paper

NM_032236.8

p.G173G

c.519C>A

1 paper

NM_032236.8

p.I163S

c.488T>G